{
    "disease_id": "DOID:14687",
    "recommended_name": {
        "id": "DOID:14687",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14687",
        "name": "diastrophic dysplasia",
        "description": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism."
    },
    "synonyms": [
        {
            "id": "MONDO:0009107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009107",
            "name": "diastrophic dysplasia",
            "description": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)."
        },
        {
            "id": "MONDO:0009107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009107",
            "name": "DD",
            "description": ""
        },
        {
            "id": "MONDO:0009107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009107",
            "name": "diastrophic dysplasia; DTD",
            "description": ""
        },
        {
            "id": "MONDO:0009107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009107",
            "name": "DTD",
            "description": ""
        },
        {
            "id": "MONDO:0009107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009107",
            "name": "diastrophic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009107",
            "name": "diastrophic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0009107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009107",
            "name": "diastrophic dysplasia, Broad bone-Platyspondylic variant",
            "description": ""
        },
        {
            "id": "MIM:222600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222600",
            "name": "Diastrophic dysplasia",
            "description": "Diastrophic dysplasia"
        }
    ]
}