{
  "id": 8640,
  "label": "branchiooculofacial syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007235",
  "properties": {
    "xrefs": [
      "DOID:0050691",
      "GARD:0003212",
      "ICD9:759.89",
      "MEDGEN:91261",
      "NORD:871",
      "OMIM:113620",
      "Orphanet:1297",
      "SCTID:449821007",
      "UMLS:C0376524"
    ],
    "synonyms": [
      "BOFS",
      "BOFS syndrome",
      "Bof syndrome",
      "Branchio Oculo Facial Syndrome",
      "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing",
      "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging",
      "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing",
      "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging",
      "branchio-oculo-facial syndrome",
      "branchiooculofacial syndrome",
      "hemangiomatous branchial clefts-Lip Pseudocleft syndrome",
      "lip Pseudocleft-Hemangiomatous branchial cyst syndrome"
    ],
    "definition": "Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}