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        "title": "Coexpression of HOXA6 and PBX2 promotes metastasis in gastric cancer.",
        "journal": "Aging",
        "date": "2021",
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        "title": "Next-generation sequencing identifies HOXA6 as a novel oncogenic gene in low grade glioma.",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111389",
                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011759",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759"
                            },
                            {
                                "id": "607015",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607015"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111389",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011760",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
                            },
                            {
                                "id": "607016",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607016"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P35475-1"
            }
        ],
        "record_id": "pubmed.10735634",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
            {
                "table_id": "referenced_proteins",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 1
                    }
                ],
                "sort_fields": [
                    "uniprot_canonical_ac",
                    "protein_name",
                    "gene_name",
                    "tax_name"
                ]
            },
            {
                "table_id": "referenced_glycans",
                "table_stats": [
                    {
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                ],
                "sort_fields": []
            },
            {
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                    {
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                    {
                        "field": "n_linked_glycan_sites",
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                    {
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                    {
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                    {
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                ],
                "sort_fields": []
            },
            {
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                ],
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            },
            {
                "table_id": "glycosylation_reported",
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                    {
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                    {
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                    {
                        "field": "n_linked_glycan_sites",
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                    {
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                    {
                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
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                        "field": "total",
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                    {
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                ],
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                ],
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        ]
    },
    {
        "title": "Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.",
        "journal": "Annals of human genetics",
        "date": "1999-01",
        "authors": "Alif N, Hess K, Straczek J, Sebbar S, N'Bou A, Nabet P, Dousset B",
        "reference": {
            "type": "PubMed",
            "id": "10738517",
            "url": "https://pubmed.ncbi.nlm.nih.gov/10738517"
        },
        "referenced_glycans": [],
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            {
                "uniprot_canonical_ac": "P35475-1",
                "protein_name": "Alpha-L-iduronidase",
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                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P35475",
                        "url": "https://www.uniprot.org/uniprotkb/P35475"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
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            }
        ],
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            {
                "evidence": [
                    {
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                    },
                    {
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                    },
                    {
                        "id": "rs121965021",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121965021#frequency_tab"
                    },
                    {
                        "id": "rs121965021",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121965021"
                    },
                    {
                        "id": "10738517",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10738517"
                    },
                    {
                        "id": "1301941",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1301941"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 533,
                "end_pos": 533,
                "sequence_org": "P",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "4",
                "chr_pos": "1003418",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P533",
                "disease": [
                    {
                        "disease_id": "DOID:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
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                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
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                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
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                            }
                        ]
                    },
                    {
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                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
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                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
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                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
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                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                            },
                            {
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                                "resource": "MONDO",
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                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
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                            {
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                            },
                            {
                                "id": "3425",
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                            },
                            {
                                "id": "0111389",
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                            }
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                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
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                        },
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                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
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                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
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                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
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                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607016"
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                            {
                                "id": "3425",
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                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
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        "authors": "Beesley C E, Meaney C A, Greenland G, Adams V, Vellodi A, Young E P, Winchester B G",
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                "glycoeffect": [],
                "start_pos": 402,
                "end_pos": 402,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "4",
                "chr_pos": "1002748",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W402",
                "disease": [
                    {
                        "disease_id": "DOID:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12798",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12798"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111389",
                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011759",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759"
                            },
                            {
                                "id": "607015",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607015"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111389",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011760",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
                            },
                            {
                                "id": "607016",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607016"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P35475-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs121965020",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965020"
                    },
                    {
                        "id": "rs121965020",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965020"
                    },
                    {
                        "id": "rs121965020",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121965020#frequency_tab"
                    },
                    {
                        "id": "rs121965020",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121965020"
                    },
                    {
                        "id": "11735025",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/11735025"
                    },
                    {
                        "id": "1505961",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1505961"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 70,
                "end_pos": 70,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "4",
                "chr_pos": "987858",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q70",
                "disease": [
                    {
                        "disease_id": "DOID:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12798",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12798"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
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                            },
                            {
                                "id": "607014",
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                            },
                            {
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                            },
                            {
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                            }
                        ]
                    },
                    {
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                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
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                                "id": "DOID:0111389",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
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                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
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                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
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                            {
                                "id": "607015",
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                                "url": "https://www.omim.org/entry/607015"
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                            {
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                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
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                    },
                    {
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                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
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                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
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                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
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                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
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                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
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    {
        "title": "Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulation.",
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        "title": "Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.",
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                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111389",
                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011759",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759"
                            },
                            {
                                "id": "607015",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607015"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111389",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011760",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
                            },
                            {
                                "id": "607016",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607016"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000000000001000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P35475-1"
            }
        ],
        "record_id": "pubmed.1301196",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
            {
                "table_id": "referenced_proteins",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 1
                    }
                ],
                "sort_fields": [
                    "uniprot_canonical_ac",
                    "protein_name",
                    "gene_name",
                    "tax_name"
                ]
            },
            {
                "table_id": "referenced_glycans",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation",
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                    {
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                    },
                    {
                        "field": "n_linked_glycan_sites",
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                    },
                    {
                        "field": "o_linked_glycan_sites",
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                    {
                        "field": "n_linked_glycans",
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                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "phosphorylation",
                "table_stats": [
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                    {
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported",
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                    {
                        "field": "total",
                        "count": 0
                    },
                    {
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                    {
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                    {
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                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
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                    },
                    {
                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
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                    {
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                    }
                ],
                "sort_fields": []
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            {
                "table_id": "glycosylation_predicted",
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                    {
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                ],
                "sort_fields": []
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            {
                "table_id": "glycosylation_automatic_literature_mining",
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                    {
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                ],
                "sort_fields": []
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        ]
    },
    {
        "title": "alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.",
        "journal": "Human mutation",
        "date": "1992",
        "authors": "Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP",
        "reference": {
            "type": "PubMed",
            "id": "1301941",
            "url": "https://pubmed.ncbi.nlm.nih.gov/1301941"
        },
        "referenced_glycans": [],
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            {
                "uniprot_canonical_ac": "P35475-1",
                "protein_name": "Alpha-L-iduronidase",
                "gene_name": "IDUA",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P35475",
                        "url": "https://www.uniprot.org/uniprotkb/P35475"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
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                    {
                        "id": "rs121965021",
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                    },
                    {
                        "id": "rs121965021",
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                    },
                    {
                        "id": "rs121965021",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121965021#frequency_tab"
                    },
                    {
                        "id": "rs121965021",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121965021"
                    },
                    {
                        "id": "10738517",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10738517"
                    },
                    {
                        "id": "1301941",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1301941"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 533,
                "end_pos": 533,
                "sequence_org": "P",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "4",
                "chr_pos": "1003418",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P533",
                "disease": [
                    {
                        "disease_id": "DOID:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
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                                "id": "12798",
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                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
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                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
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                            {
                                "id": "607014",
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                            {
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                            },
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
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                            {
                                "id": "DOID:0111389",
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                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
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                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
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                            }
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
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                            },
                            {
                                "id": "DOID:0060222",
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                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
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                            {
                                "id": "3425",
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                            {
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        "title": "PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.",
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                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_predicted",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "Structure and sequence of the human alpha-L-iduronidase gene.",
        "journal": "Genomics",
        "date": "1992",
        "authors": "Scott HS, Guo XH, Hopwood JJ, Morris CP",
        "reference": {
            "type": "PubMed",
            "id": "1505961",
            "url": "https://pubmed.ncbi.nlm.nih.gov/1505961"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P35475-1",
                "protein_name": "Alpha-L-iduronidase",
                "gene_name": "IDUA",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P35475",
                        "url": "https://www.uniprot.org/uniprotkb/P35475"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs121965020",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965020"
                    },
                    {
                        "id": "rs121965020",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965020"
                    },
                    {
                        "id": "rs121965020",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121965020#frequency_tab"
                    },
                    {
                        "id": "rs121965020",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121965020"
                    },
                    {
                        "id": "11735025",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/11735025"
                    },
                    {
                        "id": "1505961",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1505961"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 70,
                "end_pos": 70,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "4",
                "chr_pos": "987858",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q70",
                "disease": [
                    {
                        "disease_id": "DOID:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12798",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12798"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111389",
                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011759",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759"
                            },
                            {
                                "id": "607015",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607015"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111389",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
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                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000001000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "P35475-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs121965033",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965033"
                    },
                    {
                        "id": "rs121965033",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965033"
                    },
                    {
                        "id": "rs121965033",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121965033"
                    },
                    {
                        "id": "10735634",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10735634"
                    },
                    {
                        "id": "15521993",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15521993"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 346,
                "end_pos": 346,
                "sequence_org": "L",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "4",
                "chr_pos": "1002333",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L346",
                "disease": [
                    {
                        "disease_id": "DOID:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12798",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12798"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111389",
                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011759",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759"
                            },
                            {
                                "id": "607015",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607015"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111389",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011760",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
                            },
                            {
                                "id": "607016",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607016"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P35475-1"
            }
        ],
        "record_id": "pubmed.15521993",
        "abstract": "",
        "glycosylation": [],
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        "title": "A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.",
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        "authors": "Xia Jiali, Liu Min, Luo Xingli, Yang Hong, Yu Ling",
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        "title": "The genetic mucopolysaccharidoses.",
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                                "id": "DOID:0111390",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                                "description": ""
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                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                                "description": ""
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                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
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                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
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                        ],
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011759"
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                            {
                                "id": "607015",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607015"
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                            {
                                "id": "3425",
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                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
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                            {
                                "id": "0111389",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
                        ]
                    },
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                            "url": "https://disease-ontology.org/term/DOID:0060222",
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                            {
                                "id": "DOID:0060222",
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                                "name": "mucopolysaccharidosis type 1S",
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                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
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                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
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                                "name": "mucopolysaccharidosis type V",
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                            {
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                            {
                                "id": "MONDO:0011760",
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                            {
                                "id": "MONDO:0011760",
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                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0011760",
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                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
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                            },
                            {
                                "id": "MONDO:0011760",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
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                            },
                            {
                                "id": "MONDO:0011760",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
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                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
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                            {
                                "id": "0011760",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
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                            {
                                "id": "607016",
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                            {
                                "id": "3425",
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                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
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                            {
                                "id": "0060222",
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                    }
                ],
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        ],
        "record_id": "pubmed.4221470",
        "abstract": "",
        "glycosylation": [],
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        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
            {
                "table_id": "referenced_proteins",
                "table_stats": [
                    {
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                ],
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            },
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                ],
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                "table_id": "glycosylation_reported",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
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        ]
    },
    {
        "title": "Incidence of mucopolysaccharidoses in Israel: is Hunter disease a `Jewish disease`?",
        "journal": "Human genetics",
        "date": "1980",
        "authors": "Schaap T, Bach G",
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            "id": "6821579",
            "url": "https://pubmed.ncbi.nlm.nih.gov/6821579"
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            {
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        ],
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                ],
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                    {
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                ],
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                "start_pos": 64,
                "end_pos": 64,
                "sequence_org": "Y",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                "chr_pos": "987842",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y64",
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                            {
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                            {
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                            {
                                "id": "DOID:0111390",
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                            },
                            {
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                            {
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                            {
                                "id": "MONDO:0011758",
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                            {
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                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0011758",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                            },
                            {
                                "id": "MONDO:0011758",
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                            {
                                "id": "MONDO:0011758",
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                            {
                                "id": "MONDO:0011758",
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                            {
                                "id": "0111390",
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                "keywords": [
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        ],
        "record_id": "pubmed.6821579",
        "abstract": "",
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        ]
    },
    {
        "title": "Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).",
        "journal": "Human mutation",
        "date": "1995",
        "authors": "Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF",
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            "type": "PubMed",
            "id": "7550232",
            "url": "https://pubmed.ncbi.nlm.nih.gov/7550232"
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            {
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        ],
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                "glygen_name": "Human",
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            {
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                    },
                    {
                        "id": "rs121965027",
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                    },
                    {
                        "id": "rs121965027",
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                    {
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                ],
                "glycoeffect": [],
                "start_pos": 490,
                "end_pos": 490,
                "sequence_org": "L",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "4",
                "chr_pos": "1003102",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L490",
                "disease": [
                    {
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                            {
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                            {
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0011758",
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                            {
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                            {
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                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                                "description": ""
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                            {
                                "id": "MIM:607014",
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                                "name": "Mucopolysaccharidosis 1H",
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                    },
                    {
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                            "url": "https://disease-ontology.org/term/DOID:0111390",
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                            {
                                "id": "DOID:0111390",
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                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
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                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
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                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
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                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
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                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111389",
                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
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                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1-HS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis IH/S",
                                "description": ""
                            },
                            {
                                "id": "MIM:607015",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607015",
                                "name": "Mucopolysaccharidosis 1H/S",
                                "description": "Mucopolysaccharidosis 1H/S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011759",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759"
                            },
                            {
                                "id": "607015",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607015"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111389",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011760",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
                            },
                            {
                                "id": "607016",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607016"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P35475-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs121965026",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965026"
                    },
                    {
                        "id": "rs121965026",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121965026#frequency_tab"
                    },
                    {
                        "id": "rs121965026",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121965026"
                    },
                    {
                        "id": "7550232",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/7550232"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 492,
                "end_pos": 492,
                "sequence_org": "R",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "4",
                "chr_pos": "1003108",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R492",
                "disease": [
                    {
                        "disease_id": "DOID:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12798",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12798"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011760",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760"
                            },
                            {
                                "id": "607016",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607016"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0060222",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060222"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111389",
                        "recommended_name": {
                            "id": "DOID:0111389",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
                            "name": "mucopolysaccharidosis Ih/s",
                            "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111389",
                                "name": "Mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "Hurler-Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS I H-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPS1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "MPSIH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type 1H/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis type IH/S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "mucopolysaccharidosis, mps-I-s",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
                                "name": "HurlerScheie syndrome",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
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                            },
                            {
                                "id": "607014",
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                            },
                            {
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                            },
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                            }
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                    },
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111389",
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                                "description": ""
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                            {
                                "id": "DOID:0111389",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                                "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            },
                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011759",
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                            "url": "https://disease-ontology.org/term/DOID:0060222",
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                            {
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                                "resource": "Disease Ontology",
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                                "id": "DOID:0060222",
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                            {
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                            {
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                                "url": "https://www.omim.org/entry/607016",
                                "name": "Mucopolysaccharidosis 1S",
                                "description": "Mucopolysaccharidosis 1S"
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                            {
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        "title": "Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts.",
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                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                "alt_nt": "null",
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        "title": "Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.",
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                            "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": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:12798",
                        "recommended_name": {
                            "id": "DOID:12798",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12798",
                            "name": "mucopolysaccharidosis",
                            "description": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12798",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12798"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPSIH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type 1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis type IH",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "mucopolysaccharidosis IH",
                                "description": ""
                            },
                            {
                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0011758",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758"
                            },
                            {
                                "id": "607014",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607014"
                            },
                            {
                                "id": "3425",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                            },
                            {
                                "id": "0111390",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111390"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0060222",
                        "recommended_name": {
                            "id": "DOID:0060222",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060222",
                            "name": "Scheie syndrome",
                            "description": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "DOID:0060222",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060222",
                                "name": "mucopolysaccharidosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS I S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "Scheie syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type 1S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis type IS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS1-S",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "MPS5, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011760",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011760",
                                "name": "mucopolysaccharidosis Is",
                                "description": ""
                            },
                            {
                                "id": "MIM:607016",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607016",
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                                "id": "MIM:607014",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
                                "description": "Mucopolysaccharidosis 1H"
                            }
                        ],
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                                "id": "12798",
                                "database": "AGR",
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                    },
                    {
                        "disease_id": "DOID:0111390",
                        "recommended_name": {
                            "id": "DOID:0111390",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111390",
                            "name": "mucopolysaccharidosis Ih",
                            "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
                        },
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                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
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                                "name": "Dysostosis multiplex syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler disease MPS type 1H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Hurler-Pfaundler syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "L-iduronidase deficiency, Hurler type",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "MPS1-H",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "Mucopolysaccharidosis type I severe form",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "dysostosis multiplex",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111390",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111390",
                                "name": "gargoylism",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler syndrome",
                                "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "Hurler disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS I H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
                                "name": "MPS1H",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011758",
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                            {
                                "id": "MONDO:0011758",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0011758",
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607014",
                                "name": "Mucopolysaccharidosis 1H",
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                            {
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                            {
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