{
  "id": 17805,
  "label": "symbrachydactyly of hand and foot, bilateral",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017520",
  "properties": {
    "xrefs": [
      "GARD:0025108",
      "MEDGEN:754111",
      "Orphanet:295138",
      "UMLS:C2919807"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16332,
      "label": "symbrachydactyly of hands and feet",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001680",
          "MEDGEN:419146",
          "MESH:C538062",
          "Orphanet:1570",
          "UMLS:C2931719",
          "icd11.foundation:159463685"
        ],
        "synonyms": [
          "De Smet-Fabry-Fryns syndrome",
          "frints de Smet Fabry Fryns syndrome",
          "symbrachydactyly of the hand and foot"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015516"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16332,
      "label": "symbrachydactyly of hands and feet"
    }
  ]
}