{
    "disease_id": "DOID:0111335",
    "recommended_name": {
        "id": "DOID:0111335",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111335",
        "name": "myopathy with extrapyramidal signs",
        "description": "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111335",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111335",
            "name": "MPXPS",
            "description": ""
        },
        {
            "id": "DOID:0111335",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111335",
            "name": "proximal myopathy with extrapyramidal signs",
            "description": ""
        },
        {
            "id": "MONDO:0014300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014300",
            "name": "proximal myopathy with extrapyramidal signs",
            "description": "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy."
        },
        {
            "id": "MONDO:0014300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014300",
            "name": "myopathy with extrapyramidal signs; MPXPS",
            "description": ""
        },
        {
            "id": "MONDO:0014300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014300",
            "name": "myopathy with extrapyramidal signs",
            "description": ""
        },
        {
            "id": "MONDO:0014300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014300",
            "name": "MPXPS",
            "description": ""
        },
        {
            "id": "MIM:615673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615673",
            "name": "Myopathy with extrapyramidal signs",
            "description": "Myopathy with extrapyramidal signs"
        }
    ]
}