{
    "disease_id": "DOID:0080025",
    "recommended_name": {
        "id": "DOID:0080025",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080025",
        "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy",
        "description": "A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080025",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080025",
            "name": "SORDD",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "SORDD",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "Sorbitol Dehydrogenase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0030055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030055",
            "name": "sorbitol dehydrogenase deficiency with peripheral neuropathy",
            "description": ""
        },
        {
            "id": "MIM:618912",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618912",
            "name": "Sorbitol dehydrogenase deficiency with peripheral neuropathy",
            "description": "Sorbitol dehydrogenase deficiency with peripheral neuropathy"
        }
    ]
}