{
    "disease_id": "DOID:0112287",
    "recommended_name": {
        "id": "DOID:0112287",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112287",
        "name": "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech",
        "description": "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech."
    },
    "synonyms": [
        {
            "id": "DOID:0112287",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112287",
            "name": "Fantasy Island syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112287",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112287",
            "name": "SED-BDS",
            "description": ""
        },
        {
            "id": "DOID:0112287",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112287",
            "name": "SED-brachydactyly and distinctive speech",
            "description": ""
        },
        {
            "id": "DOID:0112287",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112287",
            "name": "Tattoo dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0112287",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112287",
            "name": "spondyloepiphyseal dysplasia, Cantu type",
            "description": ""
        },
        {
            "id": "MONDO:0012716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012716",
            "name": "spondyloepiphyseal dysplasia, Cantu type",
            "description": "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)."
        },
        {
            "id": "MONDO:0012716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012716",
            "name": "SED-BDS",
            "description": ""
        },
        {
            "id": "MONDO:0012716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012716",
            "name": "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012716",
            "name": "tattoo dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012716",
            "name": "Sed-BDS",
            "description": ""
        },
        {
            "id": "MONDO:0012716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012716",
            "name": "Tatoo dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0012716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012716",
            "name": "fantasy Island syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012716",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012716",
            "name": "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech",
            "description": ""
        }
    ]
}