{
    "disease_id": "DOID:0110297",
    "recommended_name": {
        "id": "DOID:0110297",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110297",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2K",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)."
    },
    "synonyms": [
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1",
            "description": ""
        },
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "LGMD2K",
            "description": ""
        },
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "MDDGC1",
            "description": ""
        },
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "muscular dystrophy limb-girdle type 2K",
            "description": ""
        },
        {
            "id": "DOID:0110297",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110297",
            "name": "limb-girdle muscular dystrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2K",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported."
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "LGMD-POMT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "LGMD2K",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "MDDGC1",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "POMT1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "limb-girdle muscular dystrophy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "limb-girdle muscular dystrophy - intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "limb-girdle muscular dystrophy type 2K",
            "description": ""
        },
        {
            "id": "MONDO:0012248",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012248",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1",
            "description": ""
        },
        {
            "id": "MIM:609308",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609308",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C1",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110297"
    ],
    "unlinked_id_list": []
}