{
    "disease_id": "DOID:0110303",
    "recommended_name": {
        "id": "DOID:0110303",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110303",
        "name": "autosomal dominant limb-girdle muscular dystrophy type 1H",
        "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110303",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110303",
            "name": "LGMD1H",
            "description": ""
        },
        {
            "id": "DOID:0110303",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110303",
            "name": "muscular dystrophy limb-girdle type 1H",
            "description": ""
        },
        {
            "id": "MONDO:0013297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013297",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1H",
            "description": "Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle."
        },
        {
            "id": "MONDO:0013297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013297",
            "name": "LGMD1H",
            "description": ""
        },
        {
            "id": "MONDO:0013297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013297",
            "name": "muscular dystrophy limb-girdle type 1H",
            "description": ""
        },
        {
            "id": "MONDO:0013297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013297",
            "name": "limb-girdle muscular dystrophy type 1H",
            "description": ""
        },
        {
            "id": "MONDO:0013297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013297",
            "name": "muscular dystrophy, limb-girdle, type 1H",
            "description": ""
        }
    ]
}