{
    "disease_id": "DOID:0110287",
    "recommended_name": {
        "id": "DOID:0110287",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110287",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2S",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35."
    },
    "synonyms": [
        {
            "id": "DOID:0110287",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110287",
            "name": "LGMD2S",
            "description": ""
        },
        {
            "id": "DOID:0110287",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110287",
            "name": "muscular dystrophy, limb-girdle, type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2S",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures."
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "LGMD2S",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "muscular dystrophy, limb-girdle, type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "limb-girdle muscular dystrophy type 2S",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014144",
            "name": "muscular dystrophy, limb-girdle, type 2S; LGMD2S",
            "description": ""
        },
        {
            "id": "MIM:615356",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615356",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 18",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 18"
        }
    ]
}