{
    "disease_id": "DOID:0080362",
    "recommended_name": {
        "id": "DOID:0080362",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080362",
        "name": "X-linked spondyloepiphyseal dysplasia tarda",
        "description": "A spondyloepiphyseal 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": "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": "spondyloepiphyseal dysplasia tarda, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "spondyloepiphyseal dysplasia tarda, X-linked recessive",
            "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": "SEDT",
            "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": "X-linked spondyloepiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010737",
            "name": "spondyloepiphyseal dysplasia tarda X-linked",
            "description": ""
        },
        {
            "id": "MIM:313400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/313400",
            "name": "Spondyloepiphyseal dysplasia tarda",
            "description": "Spondyloepiphyseal dysplasia tarda"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080362"
    ],
    "unlinked_id_list": []
}