{
  "id": 13228,
  "label": "BNAR syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012165",
  "properties": {
    "xrefs": [
      "GARD:0010595",
      "MEDGEN:413305",
      "MESH:C567672",
      "OMIM:608980",
      "Orphanet:217266",
      "SCTID:717940006",
      "UMLS:C2750433"
    ],
    "synonyms": [
      "bifid nose with or without anorectal and renal anomalies",
      "BNAR",
      "bifid NOSE with or without anorectal and renal anomalies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ],
    "definition": "BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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": 2727,
      "label": "bifid nose"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 18718,
      "label": "hereditary otorhinolaryngologic disease"
    }
  ]
}