{
    "disease_id": "DOID:0111191",
    "recommended_name": {
        "id": "DOID:0111191",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111191",
        "name": "distal myopathy Tateyama type",
        "description": "A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0111191",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111191",
            "name": "distal muscular dystrophy Tateyama type",
            "description": ""
        },
        {
            "id": "MONDO:0013686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013686",
            "name": "distal myopathy, Tateyama type",
            "description": "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability."
        },
        {
            "id": "MONDO:0013686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013686",
            "name": "MPDT",
            "description": ""
        },
        {
            "id": "MONDO:0013686",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013686",
            "name": "myopathy, distal, Tateyama type",
            "description": ""
        },
        {
            "id": "MIM:614321",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614321",
            "name": "Myopathy, distal, Tateyama type",
            "description": "Myopathy, distal, Tateyama type"
        }
    ]
}