{
  "id": 9000,
  "label": "frontorhiny",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007636",
  "properties": {
    "xrefs": [
      "DOID:0081045",
      "GARD:0012642",
      "MEDGEN:1803615",
      "NCIT:C129028",
      "OMIM:136760",
      "Orphanet:391474",
      "UMLS:C5574965"
    ],
    "synonyms": [
      "ALX3-related frontonasal dysplasia",
      "frontonasal dysplasia type 1",
      "frontorhiny",
      "isolated median cleft face syndrome",
      "FND1",
      "frontonasal dysplasia",
      "frontonasal dysplasia 1",
      "frontonasal malformation",
      "isolated median cleft syndrome",
      "median Facial cleft syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed."
  },
  "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"
    }
  ]
}