{
    "disease_id": "DOID:0060255",
    "recommended_name": {
        "id": "DOID:0060255",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060255",
        "name": "rippling muscle disease 2",
        "description": "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0060255",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060255",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "rippling muscle disease 2",
            "description": "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype."
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "rippling muscle disease 2; RMD2",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "muscular dystrophy limb-girdle type IC",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "rippling muscle disease caused by mutation in CAV3",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "muscular dystrophy, limb-girdle, type 1C; LGMD1C",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "rippling muscle disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "limb-girdle muscular dystrophy type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "LGMD1C",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "limb-girdle muscular dystrophy due to caveolin-3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "rippling muscle disease 2",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "muscular dystrophy, limb-girdle, type IC",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "CAV3 autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "RMD2",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "muscular dystrophy, limb-girdle, type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0019947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019947",
            "name": "CAV3 rippling muscle disease",
            "description": ""
        },
        {
            "id": "MIM:606072",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606072",
            "name": "Rippling muscle disease 2",
            "description": "Rippling muscle disease 2"
        }
    ]
}