{
    "disease_id": "DOID:0111389",
    "recommended_name": {
        "id": "DOID:0111389",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111389",
        "name": "mucopolysaccharidosis Ih/s",
        "description": "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111389",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111389",
            "name": "MPS1H/S",
            "description": ""
        },
        {
            "id": "DOID:0111389",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111389",
            "name": "MPSIH/S",
            "description": ""
        },
        {
            "id": "DOID:0111389",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111389",
            "name": "Mucopolysaccharidosis type 1H/S",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "Hurler-Scheie syndrome",
            "description": "Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development."
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "Hurler-Scheie syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "MPS I H-S",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "MPS1H/S",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "MPSIH/S",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "mucopolysaccharidosis type 1H/S",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "mucopolysaccharidosis type IH/S",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "mucopolysaccharidosis, mps-I-s",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "HurlerScheie syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "MPS1-HS",
            "description": ""
        },
        {
            "id": "MONDO:0011759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "name": "mucopolysaccharidosis IH/S",
            "description": ""
        },
        {
            "id": "MIM:607015",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607015",
            "name": "Mucopolysaccharidosis 1H/S",
            "description": "Mucopolysaccharidosis 1H/S"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111389"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111389",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111389",
            "categories": []
        },
        {
            "id": "MONDO:0011759",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011759",
            "categories": []
        },
        {
            "id": "MIM:607015",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607015",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35475-1",
            "uniprot_ac": "P35475",
            "uniprot_id": "IDUA_HUMAN",
            "refseq_ac": "NP_000194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-L-iduronidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "alpha-L-iduronidase isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "iduronidase alpha-L-",
                    "type": "synonym"
                },
                {
                    "name": "mucopolysaccharidosis type I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IDUA",
                    "type": "recommended"
                },
                {
                    "name": "IDA",
                    "type": "synonym"
                },
                {
                    "name": "IDUA",
                    "type": "synonym"
                },
                {
                    "name": "MPS1",
                    "type": "synonym"
                },
                {
                    "name": "MPSI",
                    "type": "synonym"
                }
            ],
            "record_id": "P35475-1",
            "evidence": [
                {
                    "id": "3425",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/3425#disease"
                },
                {
                    "id": "0011759",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011759"
                },
                {
                    "id": "607015",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607015"
                },
                {
                    "id": "0111389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2ARH2-1",
            "uniprot_ac": "A2ARH2",
            "uniprot_id": "A2ARH2_DANRE",
            "refseq_ac": "XP_001923689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-L-iduronidase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-L-iduronidase isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-L-iduronidase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "idua",
                    "type": "recommended"
                },
                {
                    "name": "idua",
                    "type": "synonym"
                }
            ],
            "record_id": "A2ARH2-1",
            "evidence": [
                {
                    "id": "0111389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48441-1",
            "uniprot_ac": "P48441",
            "uniprot_id": "IDUA_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-L-iduronidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.76",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idua",
                    "type": "recommended"
                }
            ],
            "record_id": "P48441-1",
            "evidence": [
                {
                    "id": "0111389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZE16-1",
            "uniprot_ac": "D3ZE16",
            "uniprot_id": "D3ZE16_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-L-iduronidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.76",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idua",
                    "type": "recommended"
                },
                {
                    "name": "LOC100363795",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZE16-1",
            "evidence": [
                {
                    "id": "0111389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKJ8-1",
            "uniprot_ac": "Q9VKJ8",
            "uniprot_id": "IDUA_DROME",
            "refseq_ac": "NP_609489",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-L-iduronidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.76",
                    "type": "synonym"
                },
                {
                    "name": "CG6201-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-idua",
                    "type": "synonym"
                },
                {
                    "name": "Idua-PA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-L-iduronidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idua",
                    "type": "recommended"
                },
                {
                    "name": "CG6201",
                    "type": "synonym"
                },
                {
                    "name": "D-idua",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6201",
                    "type": "synonym"
                },
                {
                    "name": "IDUA",
                    "type": "synonym"
                },
                {
                    "name": "Idua",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKJ8-1",
            "evidence": [
                {
                    "id": "0111389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111389"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111389"
}