{
  "id": 16332,
  "label": "symbrachydactyly of hands and feet",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015516",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17725,
      "label": "non-syndromic brachydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20260
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:294937"
        ],
        "synonyms": [
          "nonsyndromic brachydactyly",
          "brachydactyly",
          "isolated brachydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0017424"
    }
  ],
  "children": [
    {
      "id": 17804,
      "label": "symbrachydactyly of hand and foot, unilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:295136"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017519"
    },
    {
      "id": 17805,
      "label": "symbrachydactyly of hand and foot, bilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025108",
          "MEDGEN:754111",
          "Orphanet:295138",
          "UMLS:C2919807"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017520"
    }
  ],
  "roots": [
    {
      "id": 17725,
      "label": "non-syndromic brachydactyly"
    }
  ]
}