{
  "id": 15647,
  "label": "acrofacial dysostosis Cincinnati type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014651",
  "properties": {
    "xrefs": [
      "DOID:0060353",
      "GARD:0016117",
      "MEDGEN:903483",
      "OMIM:616462",
      "UMLS:C4225317"
    ],
    "synonyms": [
      "POLR1A acrofacial dysostosis",
      "acrofacial dysostosis caused by mutation in POLR1A",
      "AFDCIN",
      "acrofacial dysostosis, Cincinnati type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18363,
      "label": "acrofacial dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060379",
          "GARD:0021574",
          "MEDGEN:272278",
          "NCIT:C35795",
          "Orphanet:364574",
          "UMLS:C1332140",
          "icd11.foundation:1702160042"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 42,
      "reference_id": "MONDO:0018237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18363,
      "label": "acrofacial dysostosis"
    }
  ]
}