{
    "disease_id": "DOID:0112195",
    "recommended_name": {
        "id": "DOID:0112195",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112195",
        "name": "spondyloperipheral dysplasia",
        "description": "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0112195",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112195",
            "name": "spondyloperipheral dysplasia-short ulna syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010078",
            "name": "spondyloperipheral dysplasia",
            "description": "A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe."
        },
        {
            "id": "MONDO:0010078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010078",
            "name": "spondyloperipheral dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010078",
            "name": "spondyloperipheral dysplasia-short ulna syndrome",
            "description": ""
        },
        {
            "id": "MIM:271700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/271700",
            "name": "Spondyloperipheral dysplasia",
            "description": "Spondyloperipheral dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112195"
    ],
    "unlinked_id_list": []
}