{
  "id": 11985,
  "label": "Tessier number 4 facial cleft",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010850",
  "properties": {
    "xrefs": [
      "DOID:0111706",
      "GARD:0016974",
      "MEDGEN:1642051",
      "OMIM:600251",
      "Orphanet:141258",
      "UMLS:C4703420",
      "icd11.foundation:1796306367"
    ],
    "synonyms": [
      "facial clefting, oblique, type 1",
      "OBLFC1",
      "facial clefting, oblique, 1",
      "oculomaxillofacial dysplasia with oblique Facial clefts"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16572,
      "label": "oculomaxillofacial dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        18362,
        21213
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004046",
          "MEDGEN:333072",
          "MESH:C537736",
          "Orphanet:1794",
          "SCTID:763830009",
          "UMLS:C1838348",
          "icd11.foundation:921026296"
        ],
        "synonyms": [
          "Richieri-Costa-Gorlin syndrome",
          "Richieri Costa Gorlin syndrome",
          "oblique facial clefts",
          "oculomaxillofacial dysplasia with oblique facial clefts"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015824"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16572,
      "label": "oculomaxillofacial dysostosis"
    }
  ]
}