{
  "id": 12628,
  "label": "mesomelic dysplasia, Savarirayan type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011530",
  "properties": {
    "xrefs": [
      "GARD:0010584",
      "MEDGEN:343129",
      "MESH:C565349",
      "OMIM:605274",
      "Orphanet:85170",
      "SCTID:715652002",
      "UMLS:C1854470",
      "icd11.foundation:1627637820"
    ],
    "synonyms": [
      "mesomelic dysplasia with absent fibulas and triangular tibias",
      "mesomelic dysplasia, Savarirayan type",
      "triangular tibia-fibular aplasia syndrome",
      "mesomelic dysplasia Savarirayan type",
      "triangular tibia and fibular aplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 21245,
      "label": "mesomelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:593147",
          "NCIT:C121156",
          "SCTID:205473008",
          "UMLS:C0410536"
        ],
        "synonyms": [
          "mesomelic dysplasia",
          "mesomelic dysplasias",
          "Mesomelic Dysplasia",
          "Mesomelic dwarf",
          "Mesomelic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0023599"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 21245,
      "label": "mesomelic dysplasia"
    }
  ]
}