{
    "disease_id": "DOID:0080028", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "SMED Strudwick type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "Semdc"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "spondyloepimetaphyseal dysplasia, Strudwick type; SEMDSTWK"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "spondylometaepiphyseal dysplasia congenita, Strudwick type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "spondylometaphyseal dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "Smed, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "SEMDSTWK"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "Strudwick syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "SMED type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "spondyloepimetaphyseal dysplasia Strudwick type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "spondyloepimetaphyseal dysplasia congenita, Strudwick type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "dappled metaphysis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "SmD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "SEMD, Strudwick type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008476", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008476", 
            "name": "Smed, Strudwick type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080028", 
        "description": "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080028", 
        "name": "spondyloepimetaphyseal dysplasia, Strudwick type"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080028#disease-associations", 
            "id": "0080028", 
            "database": "Alliance of Genome Resources"
        }
    ]
}