{
    "disease_id": "DOID:0110292",
    "recommended_name": {
        "id": "DOID:0110292",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110292",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0110292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related",
            "description": ""
        },
        {
            "id": "DOID:0110292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "name": "LGMD2O",
            "description": ""
        },
        {
            "id": "DOID:0110292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "name": "MDDGC3",
            "description": ""
        },
        {
            "id": "DOID:0110292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110292",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "LGMD-POMGNT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "LGMD2O",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "MDDGC3",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "limb-girdle muscular dystrophy type 2O",
            "description": ""
        },
        {
            "id": "MONDO:0013161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013161",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
            "description": ""
        },
        {
            "id": "MIM:613157",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613157",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110292"
    ],
    "unlinked_id_list": []
}