{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012237", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012237", 
            "name": "nemaline myopathy caused by mutation in KBTBD13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012237", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012237", 
            "name": "nemaline myopathy 6, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012237", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012237", 
            "name": "nemaline myopathy 6; NEM6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012237", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012237", 
            "name": "nemaline myopathy type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012237", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012237", 
            "name": "NEM6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012237", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012237", 
            "name": "KBTBD13 nemaline myopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110935", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110935", 
            "name": "nemaline myopathy 6, autosomal dominant"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110935", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110935", 
        "name": "nemaline myopathy 6"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/609273", 
            "id": "609273", 
            "database": "MIM"
        }
    ]
}