{
    "batchid": 8,
    "recordid": "P06865-1",
    "recordtype": "protein",
    "sections": {
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs759434633",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759434633"
                    },
                    {
                        "id": "rs759434633",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759434633"
                    },
                    {
                        "id": "rs759434633",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs759434633#frequency_tab"
                    },
                    {
                        "id": "rs759434633",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs759434633"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 372,
                "end_pos": 372,
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347718",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V372",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2140321846",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140321846"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 372,
                "end_pos": 372,
                "sequence_org": "V",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347719",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V372",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2088635583",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2088635583"
                    },
                    {
                        "id": "rs2088635583",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2088635583"
                    },
                    {
                        "id": "rs2088635505",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2088635505"
                    },
                    {
                        "id": "rs2088635505",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2088635505"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 373,
                "end_pos": 373,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347714",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W373",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2088635643",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2088635643"
                    },
                    {
                        "id": "rs2088635643",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs2088635643#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 373,
                "end_pos": 373,
                "sequence_org": "W",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347715",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W373",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1415609256",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415609256"
                    },
                    {
                        "id": "rs1415609256",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1415609256#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 374,
                "end_pos": 374,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347712",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q374",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06865",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06865"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 374,
                "end_pos": 374,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "Q",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72347712",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "Q374",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1057519464",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057519464"
                    },
                    {
                        "id": "rs1057519464",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057519464"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 374,
                "end_pos": 374,
                "sequence_org": "Q",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347711",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q374",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1057519464",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057519464"
                    },
                    {
                        "id": "rs1057519464",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057519464"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 374,
                "end_pos": 374,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347711",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q374",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2088635332",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2088635332"
                    },
                    {
                        "id": "rs2088635332",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2088635332"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 375,
                "end_pos": 375,
                "sequence_org": "E",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347709",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E375",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs199954138",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199954138"
                    },
                    {
                        "id": "rs199954138",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs199954138"
                    },
                    {
                        "id": "rs199954138",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199954138"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 375,
                "end_pos": 375,
                "sequence_org": "E",
                "sequence_mut": "G",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347708",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E375",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 375,
                "end_pos": 375,
                "sequence_org": "E",
                "sequence_mut": "V",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000015.10",
                "chr_pos": "72347708",
                "ref_nt": "T",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E375",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs766138785",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766138785"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 375,
                "end_pos": 375,
                "sequence_org": "E",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347710",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E375",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs78532913",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78532913"
                    },
                    {
                        "id": "rs78532913",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78532913"
                    },
                    {
                        "id": "rs78532913",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs78532913"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 376,
                "end_pos": 376,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347705",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V376",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs78532913",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78532913"
                    },
                    {
                        "id": "rs78532913",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs78532913"
                    },
                    {
                        "id": "rs78532913",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs78532913"
                    },
                    {
                        "id": "rs78532913",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs78532913"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 376,
                "end_pos": 376,
                "sequence_org": "V",
                "sequence_mut": "G",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347705",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V376",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs760355218",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760355218"
                    },
                    {
                        "id": "rs760355218",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760355218"
                    },
                    {
                        "id": "rs760355218",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs760355218"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 377,
                "end_pos": 377,
                "sequence_org": "F",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347703",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "F377",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs761220941",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761220941"
                    },
                    {
                        "id": "rs761220941",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761220941"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 378,
                "end_pos": 378,
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347699",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D378",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs761220941",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761220941"
                    },
                    {
                        "id": "rs761220941",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761220941"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 378,
                "end_pos": 378,
                "sequence_org": "D",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347699",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D378",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs772807186",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772807186"
                    },
                    {
                        "id": "rs772807186",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772807186"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 378,
                "end_pos": 378,
                "sequence_org": "D",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347700",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D378",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs776119987",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776119987"
                    },
                    {
                        "id": "rs776119987",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776119987"
                    },
                    {
                        "id": "rs776119987",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs776119987#frequency_tab"
                    },
                    {
                        "id": "rs776119987",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs776119987"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 379,
                "end_pos": 379,
                "sequence_org": "N",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347697",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N379",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs770176144",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770176144"
                    },
                    {
                        "id": "rs770176144",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770176144"
                    },
                    {
                        "id": "rs770176144",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs770176144"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 379,
                "end_pos": 379,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347696",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N379",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2542582180",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542582180"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 37,
                "end_pos": 37,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72375863",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y37",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2140344677",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140344677"
                    },
                    {
                        "id": "rs2140344677",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2140344677"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 37,
                "end_pos": 37,
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72375863",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y37",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs759157781",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759157781"
                    },
                    {
                        "id": "rs759157781",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759157781"
                    },
                    {
                        "id": "rs759157781",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs759157781#frequency_tab"
                    },
                    {
                        "id": "rs759157781",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs759157781"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 37,
                "end_pos": 37,
                "sequence_org": "Y",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72375864",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y37",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Ab variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2 gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "GM2-gangliosidosis, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease, AB variant",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2542582204",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542582204"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 37,
                "end_pos": 37,
                "sequence_org": "Y",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72375866",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y37",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs746272701",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746272701"
                    },
                    {
                        "id": "rs746272701",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746272701"
                    },
                    {
                        "id": "rs746272701",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs746272701"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 381,
                "end_pos": 381,
                "sequence_org": "V",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347690",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V381",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 381,
                "end_pos": 381,
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000015.10",
                "chr_pos": "72347691",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "V381",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1405295847",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1405295847"
                    },
                    {
                        "id": "rs1405295847",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1405295847"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 381,
                "end_pos": 381,
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347691",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V381",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1595798033",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1595798033"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 381,
                "end_pos": 381,
                "sequence_org": "V",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347686CTTTA",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V381",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs960869164",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs960869164"
                    },
                    {
                        "id": "rs960869164",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs960869164#frequency_tab"
                    },
                    {
                        "id": "rs960869164",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs960869164"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 382,
                "end_pos": 382,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347687",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K382",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs960869164",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs960869164"
                    },
                    {
                        "id": "rs960869164",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs960869164#frequency_tab"
                    },
                    {
                        "id": "rs960869164",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs960869164"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 382,
                "end_pos": 382,
                "sequence_org": "K",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347687",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K382",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1057516617",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057516617"
                    },
                    {
                        "id": "rs1057516617",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1057516617#frequency_tab"
                    },
                    {
                        "id": "rs1057516617",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057516617"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 384,
                "end_pos": 384,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346707",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q384",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1057516617",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057516617"
                    },
                    {
                        "id": "rs1057516617",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1057516617#frequency_tab"
                    },
                    {
                        "id": "rs1057516617",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057516617"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 384,
                "end_pos": 384,
                "sequence_org": "Q",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346707",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q384",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2542514881",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542514881"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 384,
                "end_pos": 384,
                "sequence_org": "Q",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346705",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q384",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2140320849",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140320849"
                    },
                    {
                        "id": "rs2140320849",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2140320849"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 385,
                "end_pos": 385,
                "sequence_org": "P",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346704",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P385",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768164612",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768164612"
                    },
                    {
                        "id": "rs768164612",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768164612"
                    },
                    {
                        "id": "rs768164612",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs768164612#frequency_tab"
                    },
                    {
                        "id": "rs768164612",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768164612"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 385,
                "end_pos": 385,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346703",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P385",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768164612",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768164612"
                    },
                    {
                        "id": "rs768164612",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768164612"
                    },
                    {
                        "id": "rs768164612",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs768164612#frequency_tab"
                    },
                    {
                        "id": "rs768164612",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768164612"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 385,
                "end_pos": 385,
                "sequence_org": "P",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346703",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P385",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06865",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06865"
                    },
                    {
                        "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": 386,
                "end_pos": 386,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72346701",
                "ref_nt": "C",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "D386",
                "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": "rs1431482149",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1431482149"
                    },
                    {
                        "id": "rs1431482149",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1431482149"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 386,
                "end_pos": 386,
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346701",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D386",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs910063850",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs910063850"
                    },
                    {
                        "id": "rs910063850",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs910063850#frequency_tab"
                    },
                    {
                        "id": "rs910063850",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs910063850"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 387,
                "end_pos": 387,
                "sequence_org": "T",
                "sequence_mut": "I",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346697",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T387",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2542514845",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542514845"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 387,
                "end_pos": 387,
                "sequence_org": "T",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346697GT",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T387",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs760153692",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760153692"
                    },
                    {
                        "id": "rs760153692",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760153692"
                    },
                    {
                        "id": "rs760153692",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs760153692#frequency_tab"
                    },
                    {
                        "id": "rs760153692",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs760153692"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 388,
                "end_pos": 388,
                "sequence_org": "I",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346693",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I388",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06865",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06865"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 388,
                "end_pos": 388,
                "subjects_tested": "1704",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72346695",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "I388",
                "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": "rs146714642",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146714642"
                    },
                    {
                        "id": "rs146714642",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146714642"
                    },
                    {
                        "id": "rs146714642",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs146714642#frequency_tab"
                    },
                    {
                        "id": "rs146714642",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs146714642"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 389,
                "end_pos": 389,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346691",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I389",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs777212186",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777212186"
                    },
                    {
                        "id": "rs777212186",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777212186"
                    },
                    {
                        "id": "rs777212186",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs777212186#frequency_tab"
                    },
                    {
                        "id": "rs777212186",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs777212186"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 389,
                "end_pos": 389,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346692",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I389",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs776271078",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776271078"
                    },
                    {
                        "id": "rs776271078",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776271078"
                    },
                    {
                        "id": "rs776271078",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs776271078"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 38,
                "end_pos": 38,
                "sequence_org": "V",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72375860",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V38",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs988192535",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs988192535"
                    },
                    {
                        "id": "rs988192535",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs988192535"
                    },
                    {
                        "id": "rs988192535",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs988192535#frequency_tab"
                    },
                    {
                        "id": "rs988192535",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs988192535"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 390,
                "end_pos": 390,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346689",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q390",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs988192535",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs988192535"
                    },
                    {
                        "id": "rs988192535",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs988192535"
                    },
                    {
                        "id": "rs988192535",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs988192535#frequency_tab"
                    },
                    {
                        "id": "rs988192535",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs988192535"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 390,
                "end_pos": 390,
                "sequence_org": "Q",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346689",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q390",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1176485888",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1176485888"
                    },
                    {
                        "id": "rs1176485888",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1176485888"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 390,
                "end_pos": 390,
                "sequence_org": "Q",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346687",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q390",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1567296048",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567296048"
                    },
                    {
                        "id": "rs1567296048",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1567296048#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 390,
                "end_pos": 390,
                "sequence_org": "Q",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346688",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q390",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1567296048",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567296048"
                    },
                    {
                        "id": "rs1567296048",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1567296048#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 390,
                "end_pos": 390,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346688",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q390",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs772879726",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772879726"
                    },
                    {
                        "id": "rs1555472440",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555472440"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 390,
                "end_pos": 390,
                "sequence_org": "Q",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346689",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q390",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06865",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06865"
                    },
                    {
                        "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": 391,
                "end_pos": 391,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72346686",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V391",
                "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": "rs2140320821",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140320821"
                    },
                    {
                        "id": "rs2140320821",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2140320821"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 391,
                "end_pos": 391,
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346686",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V391",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs267606862",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs267606862"
                    },
                    {
                        "id": "rs267606862",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs267606862#frequency_tab"
                    },
                    {
                        "id": "1301958",
                        "database": "PubMed",
                        "url": ""
                    }
                ],
                "glycoeffect": [],
                "start_pos": 392,
                "end_pos": 392,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346681",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W392",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2140320813",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140320813"
                    },
                    {
                        "id": "rs2140320813",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2140320813"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 392,
                "end_pos": 392,
                "sequence_org": "W",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346682",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W392",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs121907963",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907963"
                    },
                    {
                        "id": "rs121907963",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121907963#frequency_tab"
                    },
                    {
                        "id": "rs121907963",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121907963"
                    },
                    {
                        "id": "1837283",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/1837283"
                    },
                    {
                        "id": "rs121907963",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121907963"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 393,
                "end_pos": 393,
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346680",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R393",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs370266293",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370266293"
                    },
                    {
                        "id": "rs370266293",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370266293"
                    },
                    {
                        "id": "rs370266293",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370266293"
                    },
                    {
                        "id": "rs370266293",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs370266293#frequency_tab"
                    },
                    {
                        "id": "rs370266293",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs370266293"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 393,
                "end_pos": 393,
                "sequence_org": "R",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346679",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R393",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs370266293",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370266293"
                    },
                    {
                        "id": "rs370266293",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370266293"
                    },
                    {
                        "id": "rs370266293",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370266293"
                    },
                    {
                        "id": "rs370266293",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs370266293#frequency_tab"
                    },
                    {
                        "id": "rs370266293",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs370266293"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 393,
                "end_pos": 393,
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346679",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R393",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06865",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06865"
                    },
                    {
                        "id": "rs777737367",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777737367"
                    },
                    {
                        "id": "rs777737367",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs777737367"
                    },
                    {
                        "id": "rs777737367",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs777737367"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 394,
                "end_pos": 394,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72346675",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E394",
                "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",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 395,
                "end_pos": 395,
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000015.10",
                "chr_pos": "72346674",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "D395",
                "keywords": [
                    "ebi",
                    "somatic"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2088619261",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2088619261"
                    },
                    {
                        "id": "rs2088619261",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs2088619261"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 395,
                "end_pos": 395,
                "sequence_org": "D",
                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346674",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D395",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs770303210",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770303210"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 395,
                "end_pos": 395,
                "sequence_org": "D",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346675",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D395",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs778878211",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778878211"
                    },
                    {
                        "id": "rs778878211",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778878211"
                    },
                    {
                        "id": "rs778878211",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs778878211#frequency_tab"
                    },
                    {
                        "id": "rs778878211",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs778878211"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 397,
                "end_pos": 397,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346668",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P397",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs778878211",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778878211"
                    },
                    {
                        "id": "rs778878211",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778878211"
                    },
                    {
                        "id": "rs778878211",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs778878211#frequency_tab"
                    },
                    {
                        "id": "rs778878211",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs778878211"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 397,
                "end_pos": 397,
                "sequence_org": "P",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346668",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P397",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1287479711",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1287479711"
                    },
                    {
                        "id": "rs1287479711",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1287479711"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 398,
                "end_pos": 398,
                "sequence_org": "V",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72346664",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V398",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            }
        ]
    }
}
