{
    "disease_id": "DOID:0110293",
    "recommended_name": {
        "id": "DOID:0110293",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110293",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2P",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110293",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110293",
            "name": "LGMD2P",
            "description": ""
        },
        {
            "id": "DOID:0110293",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110293",
            "name": "MDDGC9",
            "description": ""
        },
        {
            "id": "DOID:0110293",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110293",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9",
            "description": ""
        },
        {
            "id": "DOID:0110293",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110293",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2P",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles."
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "DAG1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "LGMD2P",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "MDDGC9",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "limb-girdle muscular dystrophy type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "muscular dystrophy, limb-girdle, type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related",
            "description": ""
        },
        {
            "id": "MIM:613818",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613818",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C9",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C9"
        }
    ]
}