{
  "id": 8549,
  "label": "isolated congenital anosmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007137",
  "properties": {
    "xrefs": [
      "GARD:0009486",
      "MEDGEN:95992",
      "MESH:C535983",
      "OMIM:107200",
      "Orphanet:88620",
      "SCTID:230502003",
      "UMLS:C0393778",
      "icd11.foundation:1603572540"
    ],
    "synonyms": [
      "ANIC",
      "anosmia, congenital",
      "anosmia, isolated congenital",
      "congenital anosmia"
    ],
    "categories": [
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ],
    "definition": "This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11684,
      "label": "anosmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4522
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0000458",
          "MEDGEN:1950",
          "MESH:D000857",
          "SCTID:44169009",
          "UMLS:C0003126",
          "icd11.foundation:1599308422"
        ],
        "synonyms": [
          "anosmia",
          "anosmia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010528"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        21538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021935",
          "MEDGEN:1842579",
          "Orphanet:466084",
          "UMLS:C5681130"
        ],
        "synonyms": [
          "genetic otorhinolaryngologic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome."
      },
      "child_count": 42,
      "reference_id": "MONDO:0018751"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11684,
      "label": "anosmia"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease"
    }
  ]
}