{
    "disease_id": "DOID:0112382",
    "recommended_name": {
        "id": "DOID:0112382",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112382",
        "name": "muscular dystrophy-dystroglycanopathy type C8",
        "description": "A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112382",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112382",
            "name": "MDDGC2",
            "description": ""
        },
        {
            "id": "DOID:0112382",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112382",
            "name": "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related",
            "description": ""
        },
        {
            "id": "DOID:0112382",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112382",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8",
            "description": ""
        },
        {
            "id": "DOID:0112382",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112382",
            "name": "LGMDR24",
            "description": ""
        },
        {
            "id": "DOID:0112382",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112382",
            "name": "autosomal recessive limb-girdle muscular dystrophy 24",
            "description": ""
        },
        {
            "id": "MONDO:0029135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029135",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8",
            "description": ""
        },
        {
            "id": "MONDO:0029135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029135",
            "name": "LGMD-POMGNT2 related myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0029135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029135",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8",
            "description": ""
        },
        {
            "id": "MONDO:0029135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029135",
            "name": "MDDGC8",
            "description": ""
        },
        {
            "id": "MONDO:0029135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029135",
            "name": "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related",
            "description": ""
        },
        {
            "id": "MONDO:0029135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029135",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 24",
            "description": ""
        },
        {
            "id": "MONDO:0029135",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029135",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8",
            "description": ""
        },
        {
            "id": "MIM:618135",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618135",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C8",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112382"
    ],
    "unlinked_id_list": []
}