{
    "disease_id": "DOID:0080762",
    "recommended_name": {
        "id": "DOID:0080762",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080762",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2Z",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080762",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080762",
            "name": "limb-girdle muscular dystrophy 21",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2Z",
            "description": "An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking."
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "LGMD2Z",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "muscular dystrophy, limb-girdle, type 2Z",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "POGLUT1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014977",
            "name": "limb-girdle muscular dystrophy type 2Z",
            "description": ""
        },
        {
            "id": "MIM:617232",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617232",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 21",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 21"
        }
    ]
}