{
    "disease_id": "DOID:0110278",
    "recommended_name": {
        "id": "DOID:0110278",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110278",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2D",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q."
    },
    "synonyms": [
        {
            "id": "DOID:0110278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110278",
            "name": "Alpha-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "DOID:0110278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110278",
            "name": "DMDA2",
            "description": ""
        },
        {
            "id": "DOID:0110278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110278",
            "name": "LGMD2D",
            "description": ""
        },
        {
            "id": "DOID:0110278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110278",
            "name": "Duchenne-like autosomal recessive muscular dystrophy type 2",
            "description": ""
        },
        {
            "id": "DOID:0110278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110278",
            "name": "muscular dystrophy, limb-girdle, type 2D",
            "description": ""
        },
        {
            "id": "DOID:0110278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110278",
            "name": "primary adhalinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2D",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare."
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "Alpha-sarcoglycanopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "DMDA2",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "Duchenne-like autosomal recessive muscular dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "LGMD2D",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "SGCA autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "limb-girdle muscular dystrophy type 2D",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "muscular dystrophy, limb-girdle, type 2D",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "primary adhalinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "Adhalinopathy, primary",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "Duchenne-like autosomal recessive muscular dystrophy, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "limb-girdle muscular dystrophy, type 2D",
            "description": ""
        },
        {
            "id": "MONDO:0011968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011968",
            "name": "muscular dystrophy limb-girdle with alpha-sarcoglycan",
            "description": ""
        },
        {
            "id": "MIM:608099",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608099",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 3",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110278"
    ],
    "unlinked_id_list": []
}
