{
    "disease_id": "DOID:0110930", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014138", 
            "name": "nemaline myopathy 8, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014138", 
            "name": "KLHL40 nemaline myopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014138", 
            "name": "nemaline myopathy type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014138", 
            "name": "nemaline myopathy 8; NEM8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014138", 
            "name": "nemaline myopathy caused by mutation in KLHL40"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014138", 
            "name": "NEM8"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110930", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110930", 
            "name": "NEM8"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110930", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110930", 
            "name": "nemaline myopathy 8, autosomal recessive"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110930", 
        "description": "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110930", 
        "name": "nemaline myopathy 8"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110930#disease-associations", 
            "id": "0110930", 
            "database": "Alliance of Genome Resources"
        }
    ]
}