{
    "disease_id": "DOID:0080362",
    "recommended_name": {
        "id": "DOID:0080362",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080362",
        "name": "spondyloepiphyseal dysplasia tarda",
        "description": "A spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0080362",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080362",
            "name": "X-linked spondyloepiphyseal dysplasia tarda",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "spondyloepiphyseal dysplasia tarda, X-linked",
            "description": "X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis , especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis , and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern."
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "X-linked spondyloepiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "X linked spondyloepiphyseal dysplasia tarda",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "SEDT",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "spondyloepiphyseal dysplasia tarda, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "spondyloepiphyseal dysplasia tarda X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "Sed tarda, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "SED",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "spondyloepiphyseal dysplasia tarda, X-linked; SEDT",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "spondyloepiphyseal dysplasia, late",
            "description": ""
        },
        {
            "id": "MIM:313400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/313400",
            "name": "Spondyloepiphyseal dysplasia tarda",
            "description": "Spondyloepiphyseal dysplasia tarda"
        }
    ]
}