{
  "id": 9285,
  "label": "Pai syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007956",
  "properties": {
    "xrefs": [
      "GARD:0003439",
      "MEDGEN:371972",
      "MESH:C536135",
      "OMIM:155145",
      "Orphanet:1993",
      "SCTID:722201004",
      "UMLS:C1835087",
      "icd11.foundation:1236130516"
    ],
    "synonyms": [
      "Pai syndrome",
      "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome",
      "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa",
      "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa",
      "median cleft of upper lip with polyps of facial skin and nasal mucosa"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17114,
      "label": "frontonasal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081044",
          "GARD:0002392",
          "MEDGEN:406292",
          "MESH:C538065",
          "NORD:1165",
          "OMIMPS:136760",
          "Orphanet:250",
          "SCTID:86610004",
          "UMLS:C1876203",
          "icd11.foundation:782645776"
        ],
        "synonyms": [
          "median cleft face syndrome",
          "FND1",
          "frontonasal dysplasia 1",
          "median cleft syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement."
      },
      "child_count": 18,
      "reference_id": "MONDO:0016643"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17114,
      "label": "frontonasal dysplasia"
    }
  ]
}