{
    "disease_id": "DOID:0112288",
    "recommended_name": {
        "id": "DOID:0112288",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112288",
        "name": "spondyloepiphyseal dysplasia Nishimura type",
        "description": "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112288",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112288",
            "name": "SEDN",
            "description": ""
        },
        {
            "id": "MONDO:0032835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032835",
            "name": "spondyloepiphyseal dysplasia, nishimura type",
            "description": ""
        },
        {
            "id": "MONDO:0032835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032835",
            "name": "SEDN",
            "description": ""
        },
        {
            "id": "MONDO:0032835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032835",
            "name": "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE",
            "description": ""
        }
    ]
}