{
    "disease_id": "DOID:0110282",
    "recommended_name": {
        "id": "DOID:0110282",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110282",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2H",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q."
    },
    "synonyms": [
        {
            "id": "DOID:0110282",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110282",
            "name": "LGMD2H",
            "description": ""
        },
        {
            "id": "DOID:0110282",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110282",
            "name": "muscular dystrophy Hutterite type",
            "description": ""
        },
        {
            "id": "DOID:0110282",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110282",
            "name": "sarcotubular myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110282",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110282",
            "name": "limb-girdle muscular dystrophy due to TRIM32 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2H",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement."
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "LGMD2H",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "muscular dystrophy limb-girdle type 2H",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "limb-girdle muscular dystrophy type 2H",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "muscular dystrophy Hutterite type",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "muscular dystrophy, limb-girdle, type 2H; LGMD2H",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "sarcotubular myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "muscular dystrophy, limb-girdle, type 2H",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "muscular dystrophy, Hutterite type",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "TRIM32 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "limb-girdle muscular dystrophy due to TRIM32 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009683",
            "name": "Sarcotubular myopathy",
            "description": ""
        },
        {
            "id": "MIM:254110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254110",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 8",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 8"
        }
    ]
}