{
  "id": 8459,
  "label": "Sakati-Nyhan syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007040",
  "properties": {
    "xrefs": [
      "DOID:0060359",
      "GARD:0000115",
      "MEDGEN:220889",
      "MESH:C537227",
      "OMIM:101120",
      "Orphanet:3128",
      "SCTID:403768004",
      "UMLS:C1275079"
    ],
    "synonyms": [
      "ACPS with leg hypoplasia",
      "Sakati-Nyhan syndrome",
      "acrocephalopolysyndactyly type 3",
      "ACPS 3",
      "ACPS3",
      "Sakati syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2717,
      "label": "acrocephalopolysyndactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19539
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022707",
          "MEDGEN:673840",
          "SCTID:205260006",
          "UMLS:C0687154"
        ],
        "synonyms": [
          "ACPS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A common presentation of craniosynostosis and polysyndactyly."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000078"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2717,
      "label": "acrocephalopolysyndactyly"
    }
  ]
}