{
    "disease_id": "DOID:0110935",
    "recommended_name": {
        "id": "DOID:0110935",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110935",
        "name": "nemaline myopathy 6",
        "description": "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110935",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110935",
            "name": "nemaline myopathy 6, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0012237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012237",
            "name": "nemaline myopathy 6",
            "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene."
        },
        {
            "id": "MONDO:0012237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012237",
            "name": "nemaline myopathy caused by mutation in KBTBD13",
            "description": ""
        },
        {
            "id": "MONDO:0012237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012237",
            "name": "nemaline myopathy 6, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0012237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012237",
            "name": "NEM6",
            "description": ""
        },
        {
            "id": "MONDO:0012237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012237",
            "name": "nemaline myopathy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012237",
            "name": "KBTBD13 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012237",
            "name": "nemaline myopathy 6",
            "description": ""
        },
        {
            "id": "MIM:609273",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609273",
            "name": "Nemaline myopathy 6",
            "description": "Nemaline myopathy 6"
        }
    ]
}