{
  "id": 23797,
  "label": "acrofrontofacionasal dysostosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100044",
  "properties": {
    "xrefs": [
      "GARD:0026024",
      "MEDGEN:1632008",
      "MESH:C538186",
      "OMIM:201180",
      "UMLS:C4551987"
    ],
    "synonyms": [
      "AFFN dysostosis 1",
      "acrofrontofacionasal dysostosis 1",
      "acrofrontofacionasal dysostosis type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9988,
      "label": "acrofrontofacionasal dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060226",
          "GARD:0000484",
          "MEDGEN:349729",
          "Orphanet:1784",
          "SCTID:720408003",
          "UMLS:C1860118",
          "icd11.foundation:700995487"
        ],
        "synonyms": [
          "Richieri-Costa-Colletto syndrome",
          "Affn dysostosis 1",
          "acrofrontofacionasal dysostosis 1",
          "acrofrontofacionasal dysostosis type 1",
          "acro fronto facio nasal dysostosis",
          "acrofrontofacionasal dysostosis syndrome",
          "cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly",
          "polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate",
          "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008715"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9988,
      "label": "acrofrontofacionasal dysostosis"
    }
  ]
}