{
  "id": 19453,
  "label": "spondyloepiphyseal dysplasia tarda",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019667",
  "properties": {
    "xrefs": [
      "DOID:0112284",
      "GARD:0025144",
      "ICD9:756.9",
      "NORD:1732",
      "Orphanet:93284",
      "SCTID:51952004"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [
    {
      "id": 9766,
      "label": "spondyloepiphyseal dysplasia tarda, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        19453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112285",
          "GARD:0010624",
          "MEDGEN:355785",
          "MESH:C566658",
          "OMIM:184100",
          "UMLS:C1866717"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia tarda, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008474"
    },
    {
      "id": 11260,
      "label": "spondyloepiphyseal dysplasia tarda, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        19453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112293",
          "GARD:0015237",
          "MEDGEN:338604",
          "MESH:C564797",
          "OMIM:271600",
          "UMLS:C1849054"
        ],
        "synonyms": [
          "autosomal recessive spondyloepiphyseal dysplasia tarda",
          "spondyloepiphyseal dysplasia tarda, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive form of spondyloepiphyseal dysplasia tarda."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010072"
    },
    {
      "id": 11261,
      "label": "spondyloepiphyseal dysplasia tarda, Kohn type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112292",
          "GARD:0016995",
          "MEDGEN:338603",
          "MESH:C564796",
          "OMIM:271620",
          "Orphanet:163665",
          "SCTID:719202006",
          "UMLS:C1849053",
          "icd11.foundation:758715188"
        ],
        "synonyms": [
          "Sedt with intellectual disability",
          "Sedt with mental retardation",
          "spondyloepiphyseal dysplasia tarda with intellectual disability",
          "spondyloepiphyseal dysplasia tarda with mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010073"
    },
    {
      "id": 11877,
      "label": "spondyloepiphyseal dysplasia tarda, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        19453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080362",
          "GARD:0004985",
          "MEDGEN:762085",
          "OMIM:313400",
          "UMLS:C3541456",
          "icd11.foundation:219612045"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia tarda, X-linked",
          "spondyloepiphyseal dysplasia tarda, X-linked recessive",
          "SED",
          "SEDT",
          "Sed tarda, X-linked",
          "X linked spondyloepiphyseal dysplasia tarda",
          "X-linked spondyloepiphyseal dysplasia",
          "spondyloepiphyseal dysplasia tarda X-linked",
          "spondyloepiphyseal dysplasia, late"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010737"
    },
    {
      "id": 11951,
      "label": "spondyloepiphyseal dysplasia tarda with characteristic facies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112289",
          "GARD:0024757",
          "MEDGEN:325071",
          "MESH:C564003",
          "OMIM:600093",
          "UMLS:C1838653"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia tarda with characteristic facies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010815"
    },
    {
      "id": 13280,
      "label": "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19453
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112291",
          "GARD:0024854",
          "MEDGEN:373126",
          "MESH:C563772",
          "OMIM:609223",
          "UMLS:C1836584"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012219"
    }
  ],
  "roots": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}