{
  "id": 11714,
  "label": "cleft palate with or without ankyloglossia, X-linked",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010560",
  "properties": {
    "xrefs": [
      "DOID:0060613",
      "GARD:0001394",
      "MEDGEN:375520",
      "MESH:C536426",
      "OMIM:303400",
      "Orphanet:324601",
      "SCTID:766761000",
      "UMLS:C1844830"
    ],
    "synonyms": [
      "X-linked cleft palate and ankyloglossia",
      "cleft palate with ankyloglossia",
      "cleft palate with or without ankyloglossia, X-linked",
      "CPX",
      "X-linked cleft palate",
      "cleft palate X-linked",
      "cleft palate, X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16697,
      "label": "cleft palate",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2863,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:674",
          "ICD10CM:Q35",
          "ICD10WHO:Q35",
          "ICD9:749.0",
          "ICD9:749.00",
          "MEDGEN:756015",
          "MESH:D002972",
          "MedDRA:10009269",
          "NCIT:C87069",
          "Orphanet:2014",
          "SCTID:63567004",
          "UMLS:C2981150",
          "icd11.foundation:2129534948"
        ],
        "synonyms": [
          "palatoschisis",
          "uranostaphyloschisis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees."
      },
      "child_count": 18,
      "reference_id": "MONDO:0016064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16697,
      "label": "cleft palate"
    }
  ]
}