{
    "disease_id": "DOID:0080990",
    "recommended_name": {
        "id": "DOID:0080990",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080990",
        "name": "King Denborough syndrome",
        "description": "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome."
    },
    "synonyms": [
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "King-Denborough syndrome",
            "description": "A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use."
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "Koussef-Nichols syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "King Denborough syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "Kousseff Nichols syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "Noonan like contracture myopathy hyperpyrexia",
            "description": ""
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "anesthetic-induced malignant hyperpyrexia in children",
            "description": ""
        },
        {
            "id": "MIM:619542",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619542",
            "name": "King-Denborough syndrome",
            "description": "King-Denborough syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080990"
    ],
    "unlinked_id_list": []
}