{
  "id": 17787,
  "label": "congenital absence of both forearm and hand, bilateral",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017499",
  "properties": {
    "xrefs": [
      "GARD:0025101",
      "ICD10CM:Q71.23",
      "MEDGEN:1843505",
      "Orphanet:295095",
      "UMLS:C2910270",
      "icd11.foundation:1524444518"
    ],
    "synonyms": [
      "radio-ulnar terminal transverse meromelia, bilateral"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17737,
      "label": "congenital absence of both forearm and hand",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021194",
          "ICD10CM:Q71.2",
          "MEDGEN:727129",
          "Orphanet:294979",
          "UMLS:C1306663",
          "icd11.foundation:810894993"
        ],
        "synonyms": [
          "radio-ulnar terminal transverse meromelia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017443"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17737,
      "label": "congenital absence of both forearm and hand"
    }
  ]
}