{
    "disease_id": "DOID:0110296",
    "recommended_name": {
        "id": "DOID:0110296",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110296",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2M",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110296",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110296",
            "name": "LGMD2M",
            "description": ""
        },
        {
            "id": "DOID:0110296",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110296",
            "name": "MDDGC4",
            "description": ""
        },
        {
            "id": "DOID:0110296",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110296",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2M",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases."
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "FKTN autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "MDDGC4",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "muscular dystrophy, limb-girdle, type 2M",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; MDDGC4",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "limb-girdle muscular dystrophy type 2M",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "LGMD2M",
            "description": ""
        },
        {
            "id": "MIM:611588",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611588",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4"
        }
    ]
}