{
    "disease_id": "DOID:0111390",
    "recommended_name": {
        "id": "DOID:0111390",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111390",
        "name": "mucopolysaccharidosis Ih",
        "description": "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111390",
            "name": "Dysostosis multiplex syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111390",
            "name": "Hurler disease MPS type 1H",
            "description": ""
        },
        {
            "id": "DOID:0111390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111390",
            "name": "Hurler-Pfaundler syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111390",
            "name": "L-iduronidase deficiency, Hurler type",
            "description": ""
        },
        {
            "id": "DOID:0111390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111390",
            "name": "MPS1-H",
            "description": ""
        },
        {
            "id": "DOID:0111390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111390",
            "name": "Mucopolysaccharidosis type I severe form",
            "description": ""
        },
        {
            "id": "DOID:0111390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111390",
            "name": "dysostosis multiplex",
            "description": ""
        },
        {
            "id": "DOID:0111390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111390",
            "name": "gargoylism",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "Hurler syndrome",
            "description": "Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy."
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "Hurler disease",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "Hurler syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "MPS I H",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "MPS1H",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "MPSIH",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "mucopolysaccharidosis type 1H",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "mucopolysaccharidosis type IH",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "MPS1-H",
            "description": ""
        },
        {
            "id": "MONDO:0011758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011758",
            "name": "mucopolysaccharidosis IH",
            "description": ""
        },
        {
            "id": "MIM:607014",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607014",
            "name": "Mucopolysaccharidosis 1H",
            "description": "Mucopolysaccharidosis 1H"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111390"
    ],
    "unlinked_id_list": []
}