{
    "disease_id": "DOID:0080028",
    "recommended_name": {
        "id": "DOID:0080028",
        "resource": "Disease Ontology",
        "url": "https://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": "A spondyloepimetaphyseal dysplasia 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": "spondyloepimetaphyseal dysplasia, Strudwick type",
            "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": "SMED 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": "SmD",
            "description": ""
        },
        {
            "id": "MONDO:0008476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008476",
            "name": "spondyloepimetaphyseal dysplasia 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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080028"
    ],
    "unlinked_id_list": []
}