{
    "disease_id": "DOID:0110927",
    "recommended_name": {
        "id": "DOID:0110927",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110927",
        "name": "nemaline myopathy 3",
        "description": "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0110927",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110927",
            "name": "NEM3",
            "description": ""
        },
        {
            "id": "DOID:0110927",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110927",
            "name": "nemaline myopathy 3, autosomal dominant or recessive",
            "description": ""
        },
        {
            "id": "DOID:0110927",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110927",
            "name": "congenital myopathy 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "congenital myopathy 2a, typical, autosomal dominant",
            "description": "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles."
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "ACTA1 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "CMYO2A",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "actin accumulation myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "actin accumulation myopathy (disorder)",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "actin myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "congenital myopathy 2a, typical, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "congenital myopathy with excess of thin filaments",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "nemaline myopathy 3, autosomal dominant or recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "nemaline myopathy caused by mutation in ACTA1",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "nemaline myopathy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "NEM3",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "myopathy, actin, congenital, with Excess of thin myofilaments",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "myopathy, actin, congenital, with cores",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "nemaline myopathy 3",
            "description": ""
        },
        {
            "id": "MONDO:0008070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008070",
            "name": "nemaline myopathy 3, with intranuclear rods",
            "description": ""
        },
        {
            "id": "MIM:161800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/161800",
            "name": "Congenital myopathy 2A, typical, autosomal dominant",
            "description": "Congenital myopathy 2A, typical, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110927"
    ],
    "unlinked_id_list": []
}