{
    "disease_id": "DOID:0110926",
    "recommended_name": {
        "id": "DOID:0110926",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110926",
        "name": "nemaline myopathy 1",
        "description": "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110926",
            "name": "NEM1",
            "description": ""
        },
        {
            "id": "DOID:0110926",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110926",
            "name": "nemaline myopathy 1, autosomal dominant or recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy 1",
            "description": "Any nemaline 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": "nemaline myopathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy 1; 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 caused by mutation in TPM3",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "Cap myopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0012239",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012239",
            "name": "nemaline myopathy 1, autosomal dominant or recessive",
            "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": "TPM3 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MIM:609284",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609284",
            "name": "Nemaline myopathy 1",
            "description": "Nemaline myopathy 1"
        }
    ]
}