{
  "id": 11061,
  "label": "Pfeiffer-Palm-Teller syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009858",
  "properties": {
    "xrefs": [
      "GARD:0004305",
      "MEDGEN:342366",
      "MESH:C537889",
      "OMIM:261560",
      "Orphanet:2871",
      "SCTID:726672000",
      "UMLS:C1849929"
    ],
    "synonyms": [
      "Pfeiffer-Palm-Teller syndrome",
      "PPT syndrome",
      "Pfeiffer Palm Teller syndrome",
      "short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice",
      "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice"
    ],
    "definition": "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}