{
  "id": 16128,
  "label": "arrhinia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015237",
  "properties": {
    "xrefs": [
      "GARD:0000364",
      "ICD9:748.1",
      "MEDGEN:120555",
      "MESH:C537438",
      "Orphanet:1134",
      "SCTID:111317000",
      "UMLS:C0265740",
      "icd11.foundation:409489963"
    ],
    "synonyms": [
      "Nose agenesis",
      "isolated nose agenesis",
      "Nose agenesia",
      "congenital absence of the nose",
      "isolated arrhinia"
    ],
    "categories": [
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ],
    "definition": "Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 21538,
      "label": "otorhinolaryngologic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:478.19",
          "MEDGEN:583054",
          "MESH:D010038",
          "NANDO:1100015",
          "NCIT:C118420",
          "SCTID:232208008",
          "UMLS:C0395797"
        ],
        "synonyms": [
          "ear, nose and throat disorder",
          "ear, nose or throat disorder",
          "ear/nose/throat disease",
          "otolaryngologic disorder",
          "otorhinolaryngologic disease",
          "ENT disease",
          "ENT diseases",
          "disease, ENT",
          "disease, otolaryngologic",
          "disease, otolaryngological",
          "disease, otorhinolaryngologic",
          "disease, otorhinolaryngological",
          "diseases, ENT",
          "diseases, otolaryngologic",
          "diseases, otolaryngological",
          "diseases, otorhinolaryngologic",
          "diseases, otorhinolaryngological",
          "otolaryngologic disease",
          "otolaryngologic diseases",
          "otolaryngological disease",
          "otolaryngological diseases",
          "otorhinolaryngological disease",
          "otorhinolaryngological diseases"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases."
      },
      "child_count": 40,
      "reference_id": "MONDO:0024623"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 21538,
      "label": "otorhinolaryngologic disease"
    }
  ]
}