{
    "disease_id": "DOID:0110298",
    "recommended_name": {
        "id": "DOID:0110298",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110298",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2N",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110298",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110298",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2",
            "description": ""
        },
        {
            "id": "DOID:0110298",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110298",
            "name": "LGMD2N",
            "description": ""
        },
        {
            "id": "DOID:0110298",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110298",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2N",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability."
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "LGMD-POMT2 related",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "LGMD2N",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "MDDGC2",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "POMT2 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "limb-girdle muscular dystrophy type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "muscular dystrophy, limb-girdle, type 2N",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013162",
            "name": "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related",
            "description": ""
        },
        {
            "id": "MIM:613158",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613158",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C2",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110298"
    ],
    "unlinked_id_list": []
}