{
    "disease_id": "DOID:0051045",
    "recommended_name": {
        "id": "DOID:0051045",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051045",
        "name": "myofibrillar myopathy 13 with rimmed vacuoles",
        "description": "A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "myopathy, myofibrillar, 13, with rimmed vacuoles",
            "description": "A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles."
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "HSPB8-associated autosomal dominant rimmed vacuolar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "MFM13",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "limb-girdle rimmed vacuolar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0976133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976133",
            "name": "rimmed vacuoles myopathy",
            "description": ""
        },
        {
            "id": "MIM:621078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621078",
            "name": "Myopathy, myofibrillar, 13, with rimmed vacuoles",
            "description": "Myopathy, myofibrillar, 13, with rimmed vacuoles"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051045"
    ],
    "unlinked_id_list": []
}