{
    "disease_id": "DOID:0080540",
    "recommended_name": {
        "id": "DOID:0080540",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080540",
        "name": "galactosialidosis",
        "description": "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0009737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009737",
            "name": "galactosialidosis",
            "description": "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form."
        },
        {
            "id": "MONDO:0009737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009737",
            "name": "Goldberg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009737",
            "name": "galactosialidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009737",
            "name": "neuraminidase deficiency with beta-galactosidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009737",
            "name": "GSL",
            "description": ""
        },
        {
            "id": "MONDO:0009737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009737",
            "name": "cathepsin A deficiency of",
            "description": ""
        },
        {
            "id": "MONDO:0009737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009737",
            "name": "lysosomal protective protein deficiency of",
            "description": ""
        },
        {
            "id": "MIM:256540",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256540",
            "name": "Galactosialidosis",
            "description": "Galactosialidosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080540"
    ],
    "unlinked_id_list": []
}