[
    {
        "title": "A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.",
        "journal": "Genetic counseling (Geneva, Switzerland)",
        "date": "2009",
        "authors": "Elcioglu NH, Pawlik B, Colak B, Beck M, Wollnik B",
        "reference": {
            "type": "PubMed",
            "id": "19650410",
            "url": "https://pubmed.ncbi.nlm.nih.gov/19650410"
        },
        "referenced_glycans": [],
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            {
                "uniprot_canonical_ac": "P15586-1",
                "protein_name": "N-acetylglucosamine-6-sulfatase",
                "gene_name": "GNS",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
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                        "database": "UniProtKB",
                        "id": "P15586",
                        "url": "https://www.uniprot.org/uniprotkb/P15586"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
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                    {
                        "id": "rs483352900",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs483352900"
                    },
                    {
                        "id": "19650410",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/19650410"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 410,
                "end_pos": 410,
                "sequence_org": "S",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfatase.",
                "chr_id": "12",
                "chr_pos": "64723088",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S410",
                "disease": [
                    {
                        "disease_id": "DOID:0111402",
                        "recommended_name": {
                            "id": "DOID:0111402",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111402",
                            "name": "mucopolysaccharidosis type IIID",
                            "description": "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111402",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111402",
                                "name": "GNS deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111402",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111402",
                                "name": "MPS IIID",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111402",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111402",
                                "name": "MPS3D",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111402",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111402",
                                "name": "Mucopolysaccharidosis type 3D",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111402",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111402",
                                "name": "N-acetylglucosamine-6-sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111402",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111402",
                                "name": "Sanfilippo syndrome D",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111402",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111402",
                                "name": "Sanfilippo syndrome type D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "mucopolysaccharidosis type 3D",
                                "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays."
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "GNS deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "MPS III D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "MPS3D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "MPSIIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "Sanfilippo D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "Sanfilippo syndrome D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "Sanfilippo syndrome type D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "glucosamine N-acetyl-6-sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "mucopolysaccharidosis type 3D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "mucopolysaccharidosis type IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "MPS IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "Mucopoly-saccharidosis type 3D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "N-acetylglucosamine-6-sulfate sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009658",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009658",
                                "name": "mucopolysaccharidosis, type IIID",
                                "description": ""
                            },
                            {
                                "id": "MIM:252940",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252940",
                                "name": "Mucopolysaccharidosis 3D",
                                "description": "Mucopolysaccharidosis 3D"
                            }
                        ],
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009658"
                            },
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                                "id": "252940",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252940"
                            },
                            {
                                "id": "2799",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/2799#disease"
                            },
                            {
                                "id": "0111402",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111402"
                            }
                        ]
                    }
                ],
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                    "ebi",
                    "germline",
                    "disease"
                ],
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    {
        "title": "Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.",
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        "date": "2017",
        "authors": "Roca C, Motas S, Marco S, Ribera A, Sanchez V, Sanchez X, Bertolin J, Leon X, Perez J, Garcia M, Villacampa P, Ruberte J, Pujol A, Haurigot V, Bosch F",
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        "title": "Sanfilippo syndrome type D.",
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                    {
                        "disease_id": "DOID:0111402",
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                                "resource": "Disease Ontology",
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        "title": "Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.",
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        "date": "1997",
        "authors": "H\u00e4nze J, Dittrich K, D\u00f6tsch J, Rascher W",
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