{
    "disease_id": "DOID:0110933",
    "recommended_name": {
        "id": "DOID:0110933",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110933",
        "name": "nemaline myopathy 11",
        "description": "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110933",
            "name": "NEM11",
            "description": ""
        },
        {
            "id": "DOID:0110933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110933",
            "name": "nemaline myopathy 11, autosomal recessive",
            "description": ""
        },
        {
            "id": "DOID:0110933",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110933",
            "name": "congenital myopathy 24",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "MYPN-related myopathy",
            "description": "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions."
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "MYPN nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "MYPN-related myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "NEM11",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "nemaline myopathy 11",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "nemaline myopathy 11, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "nemaline myopathy caused by mutation in MYPN",
            "description": ""
        },
        {
            "id": "MONDO:0015023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015023",
            "name": "nemaline myopathy type 11",
            "description": ""
        },
        {
            "id": "MIM:617336",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617336",
            "name": "Congenital myopathy 24",
            "description": "Congenital myopathy 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110933"
    ],
    "unlinked_id_list": []
}