{
    "disease_id": "DOID:0050441",
    "recommended_name": {
        "id": "DOID:0050441",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050441",
        "name": "mucosulfatidosis",
        "description": "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes."
    },
    "synonyms": [
        {
            "id": "DOID:0050441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050441",
            "name": "Sulfatidosis, Juvenile, Austin Type",
            "description": ""
        },
        {
            "id": "DOID:0050441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050441",
            "name": "multiple sulfatase deficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "mucosulfatidosis",
            "description": "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus."
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "MSD",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "Multiple Sulfatase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "juvenile sulfatidosis, Austin type",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "mucosulfatidosis",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "multiple sulfatase deficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "sulfatidosis, juvenile, Austin type",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "juvenile sulfatidosis",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "multiple sulfatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010088",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010088",
            "name": "sulfatidosis juvenile, Austin type",
            "description": ""
        },
        {
            "id": "MIM:272200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272200",
            "name": "Multiple sulfatase deficiency",
            "description": "Multiple sulfatase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050441"
    ],
    "unlinked_id_list": []
}