{
  "id": 29320,
  "label": "FGFR2-related Pfeiffer syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060147",
  "properties": {
    "xrefs": [
      "GARD:0028164"
    ],
    "synonyms": [
      "FGFR2-related Pfeiffer syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Pfeiffer syndrome in which the cause of the disease is a mutation in the FGFR2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8462,
      "label": "Pfeiffer syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2717
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14705",
          "GARD:0007380",
          "MEDGEN:67390",
          "NANDO:1200668",
          "NANDO:2200976",
          "NCIT:C99100",
          "NORD:1572",
          "OMIM:101600",
          "Orphanet:710",
          "SCTID:70410008",
          "UMLS:C0220658",
          "icd11.foundation:1075159878"
        ],
        "synonyms": [
          "ACS5",
          "Pfeiffer syndrome",
          "acrocephalosyndactyly type 5",
          "acrocephalosyndactyly type V",
          "type V Acrocephalosyndactyly",
          "ACS 5",
          "Noack syndrome",
          "Pfeiffer type acrocephalosyndactyly",
          "acrocephalosyndactyly, type 5",
          "craniofacial-skeletal-Dermatologic dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations."
      },
      "child_count": 5,
      "reference_id": "MONDO:0007043"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8462,
      "label": "Pfeiffer syndrome"
    }
  ]
}