{
    "disease_id": "DOID:14499",
    "recommended_name": {
        "id": "DOID:14499",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14499",
        "name": "Fabry disease",
        "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22."
    },
    "synonyms": [
        {
            "id": "DOID:14499",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14499",
            "name": "Alpha-galactosidase A deficiency",
            "description": ""
        },
        {
            "id": "DOID:14499",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14499",
            "name": "Angiokeratoma Corporis Diffusum",
            "description": ""
        },
        {
            "id": "DOID:14499",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14499",
            "name": "Fabry's disease",
            "description": ""
        },
        {
            "id": "DOID:14499",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14499",
            "name": "alpha galactosidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:14499",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14499",
            "name": "deficiency of melibiase",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "Fabry disease",
            "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations."
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "Fd",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "Anderson-Fabry disease",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "ceramide trihexosidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "deficiency of melibiase",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "diffuse angiokeratoma",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "Alpha-galactosidase A deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "hereditary dystopic lipidosis",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "alpha galactosidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "Fabry disease, Cardiac variant",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "Fabry disease",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "angiokeratoma, diffuse",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "angiokeratoma corporis diffusum",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "Gla deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010526",
            "name": "Fabry's disease",
            "description": ""
        },
        {
            "id": "MIM:301500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301500",
            "name": "Fabry disease",
            "description": "Fabry disease"
        }
    ]
}