{
  "id": 16263,
  "label": "facial cleft",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015411",
  "properties": {
    "xrefs": [
      "GARD:0019964",
      "MEDGEN:146898",
      "NCIT:C124510",
      "Orphanet:141229",
      "SCTID:92821006",
      "UMLS:C0685787",
      "icd11.foundation:11389088"
    ],
    "synonyms": [
      "cleft face",
      "craniofacial cleft",
      "prosoposchisis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "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": 21213,
      "label": "disorder of facial skeleton",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:712533",
          "UMLS:C1290148"
        ],
        "synonyms": [
          "disease of facial skeleton",
          "disease or disorder of facial skeleton",
          "disorder of facial skeleton",
          "facial skeleton disease",
          "facial skeleton disease or disorder",
          "maxillo-facial disease",
          "maxillofacial anomaly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease that involves the facial skeleton."
      },
      "child_count": 20,
      "reference_id": "MONDO:0023369"
    }
  ],
  "children": [
    {
      "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": 14335,
      "label": "commissural facial cleft",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016975",
          "ICD10CM:Q18.4",
          "ICD9:744.83",
          "MEDGEN:462142",
          "MESH:D008265",
          "OMIM:613545",
          "Orphanet:141276",
          "SCTID:40159009",
          "UMLS:C3150792",
          "icd11.foundation:1460924303"
        ],
        "synonyms": [
          "macrostomia",
          "commissural cleft, isolated",
          "lateral cleft, isolated",
          "macrostomia, isolated",
          "transverse cleft, isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0013300"
    },
    {
      "id": 16264,
      "label": "median cleft of the upper lip and maxilla",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019966",
          "MEDGEN:784645",
          "Orphanet:141239",
          "UMLS:C3697381"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015413"
    },
    {
      "id": 16266,
      "label": "Tessier number 5 facial cleft",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019968",
          "MEDGEN:609364",
          "Orphanet:141261",
          "UMLS:C0432119",
          "icd11.foundation:2138256187"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015416"
    },
    {
      "id": 16267,
      "label": "Tessier number 6 facial cleft",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019969",
          "MEDGEN:609365",
          "Orphanet:141265",
          "UMLS:C0432120",
          "icd11.foundation:1934815559"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015417"
    },
    {
      "id": 16268,
      "label": "midline cervical cleft",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019971",
          "ICD9:744.89",
          "MEDGEN:1374384",
          "Orphanet:141288",
          "SCTID:403557001",
          "UMLS:C4479645",
          "icd11.foundation:1138096311"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015419"
    },
    {
      "id": 16317,
      "label": "coloboma of superior eyelid",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263,
        19819
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019977",
          "MEDGEN:350283",
          "Orphanet:155884",
          "SCTID:763132003",
          "UMLS:C1863872"
        ],
        "synonyms": [
          "superior palpebral coloboma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015480"
    },
    {
      "id": 16318,
      "label": "coloboma of inferior eyelid",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263,
        19819
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019978",
          "MEDGEN:373417",
          "Orphanet:155889",
          "SCTID:763133008",
          "UMLS:C1837826"
        ],
        "synonyms": [
          "Inferior palpebral coloboma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015481"
    },
    {
      "id": 16695,
      "label": "median cleft lip/mandibule",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16263
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018756",
          "MEDGEN:1389145",
          "Orphanet:2006",
          "SCTID:723383005",
          "UMLS:C4518460"
        ],
        "synonyms": [
          "median cleft lower facial stage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016062"
    }
  ],
  "roots": [
    {
      "id": 19507,
      "label": "developmental defect during embryogenesis"
    },
    {
      "id": 21213,
      "label": "disorder of facial skeleton"
    }
  ]
}