{
    "disease_id": "DOID:0110926",
    "recommended_name": {
        "id": "DOID:0110926",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110926",
        "name": "congenital myopathy 4B",
        "description": "A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "name": "NEM1",
            "description": ""
        },
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "name": "nemaline myopathy 1, autosomal dominant or recessive",
            "description": ""
        },
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "name": "nemaline myopathy 1",
            "description": ""
        },
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110926",
            "name": "autosomal recessive congenital myopathy 4B",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "congenital myopathy 4B, autosomal recessive",
            "description": "Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene."
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "TPM3 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy caused by mutation in TPM3",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "NEM1",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "Nem1",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy type 1",
            "description": ""
        },
        {
            "id": "MIM:609284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609284",
            "name": "Congenital myopathy 4B, autosomal recessive",
            "description": "Congenital myopathy 4B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110926"
    ],
    "unlinked_id_list": []
}
