{
  "id": 8462,
  "label": "Pfeiffer syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007043",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": [
    {
      "id": 19447,
      "label": "Pfeiffer syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016807",
          "MEDGEN:1726699",
          "Orphanet:93258",
          "UMLS:C5438812",
          "icd11.foundation:490354109"
        ],
        "synonyms": [
          "Pfeiffer syndrome type 1",
          "classic Pfeiffer syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019659"
    },
    {
      "id": 19448,
      "label": "Pfeiffer syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016808",
          "MEDGEN:1761826",
          "Orphanet:93259",
          "UMLS:C5438849",
          "icd11.foundation:531949642"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019660"
    },
    {
      "id": 19449,
      "label": "Pfeiffer syndrome type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016809",
          "MEDGEN:1748161",
          "Orphanet:93260",
          "UMLS:C5438850",
          "icd11.foundation:1910513449"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019661"
    },
    {
      "id": 29319,
      "label": "FGFR1-related Pfeiffer syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8462
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028163"
        ],
        "synonyms": [
          "FGFR1-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 FGFR1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060146"
    },
    {
      "id": 29320,
      "label": "FGFR2-related Pfeiffer syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8462
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060147"
    }
  ],
  "roots": [
    {
      "id": 2717,
      "label": "acrocephalopolysyndactyly"
    }
  ]
}