{
    "disease_id": "DOID:0110934",
    "recommended_name": {
        "id": "DOID:0110934",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110934",
        "name": "nemaline myopathy 7",
        "description": "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110934",
            "name": "NEM7",
            "description": ""
        },
        {
            "id": "DOID:0110934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110934",
            "name": "nemaline myopathy 7, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "nemaline myopathy 7",
            "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene."
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "CFL2 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "NEM7",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "nemaline myopathy 7",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "nemaline myopathy caused by mutation in CFL2",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "nemaline myopathy type 7",
            "description": ""
        },
        {
            "id": "MIM:610687",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610687",
            "name": "Nemaline myopathy 7",
            "description": "Nemaline myopathy 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110934"
    ],
    "unlinked_id_list": []
}