{
    "disease_id": "DOID:0110928",
    "recommended_name": {
        "id": "DOID:0110928",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110928",
        "name": "nemaline myopathy 2",
        "description": "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110928",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110928",
            "name": "NEM2",
            "description": ""
        },
        {
            "id": "DOID:0110928",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110928",
            "name": "nemaline myopathy 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "DOID:0110928",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110928",
            "name": "congenital myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "nemaline myopathy 2",
            "description": "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness."
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "NEB nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "NEM2",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "nemaline myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "nemaline myopathy caused by mutation in NEB",
            "description": ""
        },
        {
            "id": "MONDO:0009725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009725",
            "name": "nemaline myopathy type 2",
            "description": ""
        },
        {
            "id": "MIM:256030",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256030",
            "name": "Nemaline myopathy 2",
            "description": "Nemaline myopathy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110928"
    ],
    "unlinked_id_list": []
}