{
    "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111402"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111402",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111402",
            "categories": []
        },
        {
            "id": "MONDO:0009658",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009658",
            "categories": []
        },
        {
            "id": "MIM:252940",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252940",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15586-1",
            "uniprot_ac": "P15586",
            "uniprot_id": "GNS_HUMAN",
            "refseq_ac": "NP_002067",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosamine-6-sulfatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.14",
                    "type": "synonym"
                },
                {
                    "name": "G6S",
                    "type": "synonym"
                },
                {
                    "name": "Glucosamine-6-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-6-sulfatase precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-6-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine -6-sulfatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNS",
                    "type": "recommended"
                },
                {
                    "name": "G6S",
                    "type": "synonym"
                },
                {
                    "name": "GNS",
                    "type": "synonym"
                }
            ],
            "record_id": "P15586-1",
            "evidence": [
                {
                    "id": "2799",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/2799#disease"
                },
                {
                    "id": "0009658",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009658"
                },
                {
                    "id": "252940",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252940"
                },
                {
                    "id": "0111402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IMG2-1",
            "uniprot_ac": "A0A0R4IMG2",
            "uniprot_id": "A0A0R4IMG2_DANRE",
            "refseq_ac": "NP_956135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosamine-6-sulfatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.14",
                    "type": "synonym"
                },
                {
                    "name": "Glucosamine-6-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID), b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnsb",
                    "type": "recommended"
                },
                {
                    "name": "gnsb",
                    "type": "synonym"
                },
                {
                    "name": "gns",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi20h10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55370",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IMG2-1",
            "evidence": [
                {
                    "id": "0111402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BFR4-1",
            "uniprot_ac": "Q8BFR4",
            "uniprot_id": "GNS_MOUSE",
            "refseq_ac": "NP_083640",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosamine-6-sulfatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.14",
                    "type": "synonym"
                },
                {
                    "name": "G6S",
                    "type": "synonym"
                },
                {
                    "name": "Glucosamine-6-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-6-sulfatase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamine-6-sulfatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gns",
                    "type": "recommended"
                },
                {
                    "name": "2610016K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "G6S",
                    "type": "synonym"
                },
                {
                    "name": "Gns",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BFR4-1",
            "evidence": [
                {
                    "id": "0111402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111402"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111402"
}