{
    "disease_id": "DOID:0080991",
    "recommended_name": {
        "id": "DOID:0080991",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080991",
        "name": "congenital myopathy 1B",
        "description": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form."
    },
    "synonyms": [
        {
            "id": "DOID:0080991",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080991",
            "name": "multiminicore disease",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "congenital multicore myopathy with external ophthalmoplegia",
            "description": "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as 'minicores' on ATPase staining as a result of focal defects in oxidative activity."
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "minicore myopathy, antenatal onset, with arthrogryposis",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "minicore myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "minicore myopathy with external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "multicore myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "multicore myopathy with external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "multiminicore disease with external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "multiminicore myopathy multicore myopathy with external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MIM:255320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255320",
            "name": "Congenital myopathy 1B, autosomal recessive",
            "description": "Congenital myopathy 1B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080991"
    ],
    "unlinked_id_list": []
}