{
    "disease_id": "DOID:0110299",
    "recommended_name": {
        "id": "DOID:0110299",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110299",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2I",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110299",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110299",
            "name": "LGMD2I",
            "description": ""
        },
        {
            "id": "DOID:0110299",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110299",
            "name": "MDDGC5",
            "description": ""
        },
        {
            "id": "DOID:0110299",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110299",
            "name": "muscular dystrophy limb-girdle type 2I",
            "description": ""
        },
        {
            "id": "DOID:0110299",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110299",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related",
            "description": ""
        },
        {
            "id": "DOID:0110299",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110299",
            "name": "Limb-girdle muscular dystrophy due to FKRP deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110299",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110299",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2I",
            "description": "A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported."
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "FKRP autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "LGMD-FKRP related",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "LGMD2I",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "MDDGC5",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "limb-girdle muscular dystrophy due to FKRP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "muscular dystrophy limb-girdle type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "limb-girdle muscular dystrophy type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "muscular dystrophy, limb-girdle, type 2I",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011787",
            "name": "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related",
            "description": ""
        },
        {
            "id": "MIM:607155",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607155",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C5",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C5"
        }
    ]
}