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    {
        "title": "IL-2 receptor signaling through the Shb adapter protein in T and NK cells.",
        "journal": "Biochemical and biophysical research communications",
        "date": "2002",
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        "title": "Structure of the quaternary complex of interleukin-2 with its alpha, beta, and gammac receptors.",
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    {
        "title": "Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.",
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        "authors": "Crotty PL, Braun SE, Anderson RA, Whitley CB",
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                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
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                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
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                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
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                    {
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            }
        ]
    },
    {
        "title": "Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).",
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                                "description": "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement."
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                                "name": "Hunter syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                                "name": "Hunter's syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "I2S deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "IDS deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS with skin involvement",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                                "name": "mucopolysaccharidosis II, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "sulfoiduronate sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:309900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/309900",
                                "name": "Mucopolysaccharidosis 2",
                                "description": "Mucopolysaccharidosis 2"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0010674",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010674"
                            },
                            {
                                "id": "309900",
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                            },
                            {
                                "id": "3423",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3423#disease"
                            },
                            {
                                "id": "12799",
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                                "url": "https://www.alliancegenome.org/disease/DOID:12799"
                            }
                        ]
                    }
                ],
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                ],
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            },
            {
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                    {
                        "id": "1303211",
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                    {
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                ],
                "glycoeffect": [],
                "start_pos": 443,
                "end_pos": 443,
                "subjects_tested": "1704",
                "subjects_positive": "3",
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                "chr_pos": "149483072",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R443",
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                    {
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                            {
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                            {
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                            {
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                            {
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "DOID:363",
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                                "description": ""
                            }
                        ],
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                            "DOID:5166",
                            "DOID:2021",
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                            "resource": "Disease Ontology",
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                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:3451"
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                                "id": "4159",
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                        ]
                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12799",
                            "name": "mucopolysaccharidosis II",
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                        "synonyms": [
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "Hunter syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
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                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "Mucopolysaccharidosis, MPS-II",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
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                                "description": ""
                            },
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                                "id": "MONDO:0010674",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "I2S deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "IDS deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "Mucopolysaccharidosis Type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "SIDS deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "iduronate 2-sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis II, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis with skin involvement",
                                "description": ""
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type 2",
                                "description": ""
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "severe MPS II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "sulfoiduronate sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:309900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/309900",
                                "name": "Mucopolysaccharidosis 2",
                                "description": "Mucopolysaccharidosis 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010674",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674"
                            },
                            {
                                "id": "309900",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/309900"
                            },
                            {
                                "id": "3423",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3423#disease"
                            },
                            {
                                "id": "12799",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12799"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111395",
                        "recommended_name": {
                            "id": "DOID:0111395",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111395",
                            "name": "mucopolysaccharidosis type IIIA",
                            "description": "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
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                                "name": "MPS3A",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "MPSIIIA",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "Sanfilippo syndrome type A",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "heparan sulfamidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis III-A",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis type IIIA (Sanfilippo A)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopolysaccharidosis type 3A",
                                "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures."
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0009655",
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                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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    {
        "title": "Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
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                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    },
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                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
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                                "id": "4159",
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                        ]
                    },
                    {
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                        "recommended_name": {
                            "id": "DOID:12799",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12799",
                            "name": "mucopolysaccharidosis II",
                            "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "Hunter syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "Hunter's syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "MPS II - Hunter syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "Mucopolysaccharidosis, MPS-II",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "deficiency of iduronate-2-sulphatase",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement."
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "Hunter's syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "I2S deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "IDS deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS with skin involvement",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPSII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "Mucopolysaccharidosis Type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "SIDS deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "attenuated MPS (subtype; formerly known as mild MPS II)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "iduronate 2-sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis II, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type 2",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis with skin involvement",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type 2",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type II",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "severe MPS II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "sulfoiduronate sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:309900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/309900",
                                "name": "Mucopolysaccharidosis 2",
                                "description": "Mucopolysaccharidosis 2"
                            }
                        ],
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                                "id": "0010674",
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                            },
                            {
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                            },
                            {
                                "id": "3423",
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                                "url": "https://glycosmos.org/glycogenes/show/3423#disease"
                            },
                            {
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12799"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111395",
                        "recommended_name": {
                            "id": "DOID:0111395",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111395",
                            "name": "mucopolysaccharidosis type IIIA",
                            "description": "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3."
                        },
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                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "MPSIIIA",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "Sanfilippo syndrome type A",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "heparan sulfamidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis III-A",
                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis type IIIA (Sanfilippo A)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopolysaccharidosis type 3A",
                                "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "MPS3A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
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                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "Sanfilippo syndrome type A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
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                                "name": "heparan sulfamidase deficiency",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopolysaccharidosis type 3A",
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                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "heparane sulfamidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopoly-saccharidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopolysaccharidosis, type IIIA",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252900",
                                "name": "Mucopolysaccharidosis 3A",
                                "description": "Mucopolysaccharidosis 3A"
                            }
                        ],
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                            },
                            {
                                "id": "6448",
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                            },
                            {
                                "id": "0111395",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111395"
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                        ]
                    }
                ],
                "keywords": [
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    {
        "title": "Detection of point mutations and a gross deletion in six Hunter syndrome patients.",
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        "authors": "Flomen R H, Green P M, Bentley D R, Giannelli F, Green E P",
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                "uniprot_canonical_ac": "P22304-1",
                "protein_name": "Iduronate 2-sulfatase",
                "gene_name": "IDS",
                "tax_name": "Human"
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        ],
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                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
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            {
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                        "id": "rs104894856",
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                    {
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                ],
                "glycoeffect": [],
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                "end_pos": 160,
                "sequence_org": "P",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfatase.",
                "chr_id": "X",
                "chr_pos": "149500977",
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                "minor_allelic_frequency": "",
                "site_lbl": "P160",
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                    {
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                        "synonyms": [
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                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:12799",
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "I2S deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            {
                                "id": "MONDO:0010674",
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                            {
                                "id": "MONDO:0010674",
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                            {
                                "id": "MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis II, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type 2",
                                "description": ""
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type 2",
                                "description": ""
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                            {
                                "id": "MONDO:0010674",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            {
                                "id": "MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                                "name": "Mucopolysaccharidosis 2",
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                            },
                            {
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                            },
                            {
                                "id": "3423",
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            {
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                    {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
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                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
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                        ],
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                    {
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                                "id": "DOID:12799",
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        "title": "Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.",
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                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
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                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
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                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
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                                "id": "4159",
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                        "recommended_name": {
                            "id": "DOID:12799",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12799",
                            "name": "mucopolysaccharidosis II",
                            "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase."
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                        "synonyms": [
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "Hunter syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "Hunter's syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "MPS II - Hunter syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "Mucopolysaccharidosis, MPS-II",
                                "description": ""
                            },
                            {
                                "id": "DOID:12799",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12799",
                                "name": "deficiency of iduronate-2-sulphatase",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                                "description": "A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement."
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "Hunter's syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "I2S deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "IDS deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS with skin involvement",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPS2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "MPSII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "Mucopolysaccharidosis Type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "SIDS deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "attenuated MPS (subtype; formerly known as mild MPS II)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "iduronate 2-sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis II, X-linked recessive",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type 2",
                                "description": ""
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                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis with skin involvement",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type 2",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "mucopolysaccharidosis, type II",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "severe MPS II",
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                            },
                            {
                                "id": "MONDO:0010674",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010674",
                                "name": "sulfoiduronate sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:309900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/309900",
                                "name": "Mucopolysaccharidosis 2",
                                "description": "Mucopolysaccharidosis 2"
                            }
                        ],
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                                "id": "0010674",
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                            },
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                            {
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                                "url": "https://glycosmos.org/glycogenes/show/3423#disease"
                            },
                            {
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                                "url": "https://www.alliancegenome.org/disease/DOID:12799"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111395",
                        "recommended_name": {
                            "id": "DOID:0111395",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111395",
                            "name": "mucopolysaccharidosis type IIIA",
                            "description": "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3."
                        },
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                            },
                            {
                                "id": "DOID:0111395",
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                                "name": "MPSIIIA",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "Sanfilippo syndrome type A",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "heparan sulfamidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis III-A",
                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111395",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111395",
                                "name": "mucopolysaccharidosis type IIIA (Sanfilippo A)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopolysaccharidosis type 3A",
                                "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures."
                            },
                            {
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                                "resource": "MONDO",
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                                "name": "MPS III A",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
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                            },
                            {
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                                "resource": "MONDO",
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                                "name": "Sanfilippo A",
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                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "Sanfilippo syndrome a",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "Sanfilippo syndrome type A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "heparan sulfamidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopolysaccharidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopolysaccharidosis type IIIA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "heparan sulphate sulfatase deficiency",
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                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "heparane sulfamidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopoly-saccharidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009655",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009655",
                                "name": "mucopolysaccharidosis, type IIIA",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252900",
                                "name": "Mucopolysaccharidosis 3A",
                                "description": "Mucopolysaccharidosis 3A"
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                                "url": "https://www.omim.org/entry/252900"
                            },
                            {
                                "id": "6448",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/6448#disease"
                            },
                            {
                                "id": "0111395",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111395"
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                        ]
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                ],
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        "record_id": "pubmed.8318991",
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        "phosphorylation": [],
        "glycation": [],
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    {
        "title": "Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.",
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