{
  "id": 16314,
  "label": "cysts and fistulae of the face and oral cavity",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015476",
  "properties": {
    "xrefs": [
      "GARD:0019973",
      "MEDGEN:1843131",
      "Orphanet:155835",
      "UMLS:C5680632"
    ],
    "categories": [
      {
        "ref": "MONDO:0024623",
        "name": "otorhinolaryngologic disease"
      }
    ],
    "definition": "An otorhinolaryngologic disease characterized by the abnormal growths or passages in the tissues of the mouth, jaw, and surrounding areas."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:759.7",
          "MEDGEN:1825997",
          "NCIT:C99267",
          "Orphanet:93890",
          "SCTID:400038003",
          "UMLS:C5680284"
        ],
        "synonyms": [
          "congenital malformation syndrome",
          "developmental defect during embryogenesis",
          "disorder of embryonic morphogenesis",
          "embryonic morphogenesis disease",
          "malformation syndrome",
          "rare developmental defect during embryogenesis"
        ],
        "definition": "A disease that has its basis in the disruption of embryonic morphogenesis."
      },
      "child_count": 52,
      "reference_id": "MONDO:0019755"
    },
    {
      "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": [
    {
      "id": 8638,
      "label": "second branchial cleft anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16314,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016968",
          "MEDGEN:840602",
          "NCIT:C104813",
          "OMIM:113600",
          "Orphanet:141022",
          "SCTID:73381000119100",
          "UMLS:C3874315"
        ],
        "synonyms": [
          "branchial cleft",
          "branchial cleft remnant",
          "second branchial cleft cyst",
          "second branchial cleft fistula",
          "branchial cleft anomalies",
          "branchial cysts"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007233"
    },
    {
      "id": 9852,
      "label": "familial thyroglossal duct cyst",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7231,
        7962,
        16048,
        16314,
        18718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005204",
          "MEDGEN:501211",
          "MESH:C536909",
          "OMIM:188455",
          "Orphanet:93953",
          "SCTID:717331000",
          "UMLS:C3495590"
        ],
        "synonyms": [
          "hereditary thyroglossal duct cyst",
          "hereditary thyroglossal duct cysts",
          "thyroglossal duct cyst, familial",
          "thyroglossal duct cysts",
          "thyroglossal duct cysts familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008565"
    },
    {
      "id": 16230,
      "label": "first branchial cleft anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019934",
          "MEDGEN:848144",
          "Orphanet:141013",
          "SCTID:73371000119103",
          "UMLS:C3874320",
          "icd11.foundation:1956658224"
        ],
        "synonyms": [
          "first branchial cleft cyst",
          "first branchial cleft fistula"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015376"
    },
    {
      "id": 16231,
      "label": "third branchial cleft anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019935",
          "MEDGEN:850398",
          "Orphanet:141030",
          "SCTID:73391000119102",
          "UMLS:C3874314"
        ],
        "synonyms": [
          "third branchial cleft cyst",
          "third branchial cleft fistula"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015377"
    },
    {
      "id": 16232,
      "label": "fourth branchial cleft anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019936",
          "MEDGEN:837698",
          "Orphanet:141037",
          "SCTID:707234001",
          "UMLS:C3873490"
        ],
        "synonyms": [
          "fourth branchial cleft cyst",
          "fourth branchial cleft fistula"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015378"
    },
    {
      "id": 16233,
      "label": "cervical dermoid cyst",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4475,
        16314,
        20519
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019937",
          "MEDGEN:1643725",
          "Orphanet:141046",
          "SCTID:763129001",
          "UMLS:C4706299"
        ],
        "synonyms": [
          "dermoid cyst of the neck"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015379"
    },
    {
      "id": 16234,
      "label": "facial dermoid cyst",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4475,
        7231,
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019938",
          "MEDGEN:1646552",
          "Orphanet:141051",
          "SCTID:763220008",
          "UMLS:C4706321"
        ],
        "synonyms": [
          "dermoid cyst of the face"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015380"
    },
    {
      "id": 16235,
      "label": "commissural lip fistula",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8301,
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019939",
          "MEDGEN:1809431",
          "Orphanet:141061",
          "UMLS:C5680634",
          "icd11.foundation:27017896"
        ],
        "synonyms": [
          "cysts and fistulae of the face and oral cavity of labial commissure",
          "labial commissure cysts and fistulae of the face and oral cavity"
        ],
        "categories": [
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A rare otorhinolaryngologic disease characterized by a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015381"
    },
    {
      "id": 16236,
      "label": "lower lip fistula",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6519,
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019940",
          "MEDGEN:698113",
          "Orphanet:141064",
          "UMLS:C1274792",
          "icd11.foundation:230523092"
        ],
        "synonyms": [
          "cysts and fistulae of the face and oral cavity of lower lip",
          "lower lip cysts and fistulae of the face and oral cavity"
        ],
        "categories": [
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A rare otorhinolaryngologic disease characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015382"
    },
    {
      "id": 16237,
      "label": "cervicofacial fibrochondroma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019941",
          "MEDGEN:1684766",
          "Orphanet:141067",
          "UMLS:C5231314",
          "icd11.foundation:427530222"
        ],
        "synonyms": [
          "cervicofacial enchondroma"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015383"
    },
    {
      "id": 16238,
      "label": "digestive duplication cyst of the tongue",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3409,
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019942",
          "MEDGEN:1393450",
          "Orphanet:141071",
          "UMLS:C4512051"
        ],
        "synonyms": [
          "cysts and fistulae of the face and oral cavity of tongue",
          "enteric duplication cyst of the tongue",
          "foregut duplication cyst of the tongue",
          "gastric duplication cyst of the tongue",
          "tongue cysts and fistulae of the face and oral cavity"
        ],
        "categories": [
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          },
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015384"
    },
    {
      "id": 16262,
      "label": "nasal dorsum fistula/cyst",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019963",
          "MEDGEN:573381",
          "Orphanet:141219",
          "UMLS:C0339853"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A rare otorhinolaryngologic disease characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015410"
    },
    {
      "id": 16315,
      "label": "pinnae fistula or cyst",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16314
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019974",
          "MEDGEN:1842452",
          "Orphanet:155838",
          "UMLS:C5680633"
        ],
        "categories": [
          {
            "ref": "MONDO:0024623",
            "name": "otorhinolaryngologic disease"
          }
        ],
        "definition": "A rare otorhinolaryngological disease characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015477"
    }
  ],
  "roots": [
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 21538,
      "label": "otorhinolaryngologic disease"
    }
  ]
}