{
  "id": 10131,
  "label": "bifid nose, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008866",
  "properties": {
    "xrefs": [
      "GARD:0015142",
      "MEDGEN:854359",
      "OMIM:210400",
      "UMLS:C3887497"
    ],
    "synonyms": [
      "autosomal recessive bifid nose",
      "bifid nose, autosomal recessive",
      "Nose, Median cleft of",
      "median fissure of Nose"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ],
    "definition": "Autosomal recessive form of bifid nose."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 2727,
      "label": "bifid nose",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16263,
        21538
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000884",
          "MEDGEN:66379",
          "MESH:C535441",
          "Orphanet:2695",
          "UMLS:C0221363",
          "icd11.foundation:1824850646"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated."
      },
      "child_count": 6,
      "reference_id": "MONDO:0000110"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": [
    {
      "id": 16265,
      "label": "paramedian nasal cleft",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10131
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016973",
          "ICD9:748.1",
          "MEDGEN:1681273",
          "Orphanet:141242",
          "SCTID:204521002",
          "UMLS:C4759655",
          "icd11.foundation:1147502981"
        ],
        "synonyms": [
          "Tessier number 1 cleft",
          "alar cleft",
          "alar rim cleft",
          "cleft nose",
          "isolated cleft of the ala nasi",
          "isolated coloboma of the nose"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015414"
    }
  ],
  "roots": [
    {
      "id": 2727,
      "label": "bifid nose"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease"
    }
  ]
}