{
    "disease_id": "DOID:0080028",
    "recommended_name": {
        "id": "DOID:0080028",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080028",
        "name": "spondyloepimetaphyseal dysplasia, Strudwick type",
        "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)."
    },
    "synonyms": [
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "spondyloepimetaphyseal dysplasia, Strudwick type",
            "description": "Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "SMED Strudwick type",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "Semdc",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "spondyloepimetaphyseal dysplasia, Strudwick type; SEMDSTWK",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "spondylometaepiphyseal dysplasia congenita, Strudwick type",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "spondylometaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "Smed, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "SEMDSTWK",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "Strudwick syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "spondyloepimetaphyseal dysplasia, Strudwick type",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "SMED type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "spondyloepimetaphyseal dysplasia Strudwick type",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "spondyloepimetaphyseal dysplasia congenita, Strudwick type",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "dappled metaphysis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "SmD",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "SEMD, Strudwick type",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "Smed, Strudwick type",
            "description": ""
        },
        {
            "id": "MIM:184250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/184250",
            "name": "Spondyloepimetaphyseal dysplasia, Strudwick type",
            "description": "Spondyloepimetaphyseal dysplasia, Strudwick type"
        }
    ]
}