{
    "disease_id": "DOID:0060346",
    "recommended_name": {
        "id": "DOID:0060346",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060346",
        "name": "congenital myopathy 13",
        "description": "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060346",
            "name": "Bailey-Bloch congenital myopathy",
            "description": ""
        },
        {
            "id": "DOID:0060346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060346",
            "name": "Native American myopathy",
            "description": ""
        },
        {
            "id": "DOID:0060346",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060346",
            "name": "STAC3 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "Bailey-Bloch congenital myopathy",
            "description": "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia."
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "Bailey-Bloch congenital myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "Native American myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "STAC3 disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "congenital myopathy-cleft palate-malignant hyperthermia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "myopathy, congenital, baily-bloch",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "NAM",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "congenital myopathy - cleft palate - malignant hyperthermia",
            "description": ""
        },
        {
            "id": "MONDO:0009722",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009722",
            "name": "congenital myopathy cleft palate and malignant hyperthermia",
            "description": ""
        },
        {
            "id": "MIM:255995",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255995",
            "name": "Congenital myopathy 13",
            "description": "Congenital myopathy 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060346"
    ],
    "unlinked_id_list": []
}