{
    "disease_id": "DOID:0110284",
    "recommended_name": {
        "id": "DOID:0110284",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110284",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2L",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14."
    },
    "synonyms": [
        {
            "id": "DOID:0110284",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110284",
            "name": "LGMD2L",
            "description": ""
        },
        {
            "id": "DOID:0110284",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110284",
            "name": "muscular dystrophy, limb-girdle, type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012652",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2L",
            "description": "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood."
        },
        {
            "id": "MONDO:0012652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012652",
            "name": "ANO5 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012652",
            "name": "LGMD2L",
            "description": ""
        },
        {
            "id": "MONDO:0012652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012652",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5",
            "description": ""
        },
        {
            "id": "MONDO:0012652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012652",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 12",
            "description": ""
        },
        {
            "id": "MONDO:0012652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012652",
            "name": "muscular dystrophy, limb-girdle, type 2L",
            "description": ""
        },
        {
            "id": "MONDO:0012652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012652",
            "name": "limb-girdle muscular dystrophy type 2L",
            "description": ""
        },
        {
            "id": "MIM:611307",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611307",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 12",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 12"
        }
    ],
    "children": [],
    "id_list": [
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    ],
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    "crossref": [
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            "id": "DOID:0110284",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110284",
            "categories": []
        },
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            "id": "MONDO:0012652",
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            "url": "https://monarchinitiative.org/disease/MONDO:0012652",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/611307",
            "categories": []
        }
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110284"
}