{
  "id": 2863,
  "label": "orofacial cleft",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000358",
  "properties": {
    "xrefs": [
      "DOID:0050567",
      "MEDGEN:472000",
      "OMIMPS:119530",
      "SCTID:449790007",
      "UMLS:C3266076"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A disorder of facial skeleton that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 16,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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": 6518,
      "label": "cleft lip",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9296",
          "HP:0410030",
          "ICD10CM:Q36",
          "ICD10WHO:Q36",
          "ICD9:749.1",
          "ICD9:749.10",
          "ICD9:749.11",
          "MEDGEN:1370297",
          "MESH:D002971",
          "NCIT:C87175",
          "SCTID:80281008",
          "UMLS:C4321245"
        ],
        "synonyms": [
          "cheiloschisis",
          "cleft lip",
          "cleft lip (disease)",
          "cleft lip, unilateral, complete",
          "labium leporinum"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse."
      },
      "child_count": 3,
      "reference_id": "MONDO:0004747"
    },
    {
      "id": 8730,
      "label": "orofacial cleft 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080395",
          "GARD:0027776",
          "MEDGEN:349303",
          "MESH:C566121",
          "NCIT:C124838",
          "OMIM:119530",
          "UMLS:C1861537"
        ],
        "synonyms": [
          "OFC1",
          "orofacial cleft 1",
          "orofacial cleft-1",
          "cleft Lip/palate, nonsyndromic",
          "cleft lip with or without cleft palate, nonsyndromic, 1",
          "orofacial cleft, nonsyndromic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cleft lip with or without cleft palate mapped to chromosome 6p24."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007335"
    },
    {
      "id": 10395,
      "label": "cleft lip/palate-ectodermal dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863,
        7611,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060773",
          "GARD:0000375",
          "MEDGEN:444067",
          "NCIT:C122656",
          "OMIM:225060",
          "Orphanet:320317",
          "Orphanet:3253",
          "SCTID:716248001",
          "UMLS:C2931488"
        ],
        "synonyms": [
          "Zlotogora-Ogur syndrome",
          "cleft lip/palate-ectodermal dysplasia syndrome",
          "cleft lip/palate-syndactyly-pili torti syndrome",
          "syndactyly-ectodermal dysplasia-cleft/lip palate",
          "Bustos Simosa pinto Cisternas syndrome",
          "CLEPD",
          "CLPED1",
          "ED4",
          "Zlotogora syndrome",
          "autosomal recessive ectodermal dysplasia",
          "cleft lip with or without cleft palate, nonsyndromic, 7",
          "cleft lip-palate-ectodermal dysplasia syndrome",
          "cleft lip/palate-syndactyly-pili torti",
          "ectodermal dysplasia margarita island type",
          "ectodermal dysplasia type 4",
          "ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly",
          "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly",
          "ectodermal dysplasia, margarita Island type",
          "ectodermal dysplasia, type 4",
          "orofacial cleft 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009151"
    },
    {
      "id": 12396,
      "label": "orofacial cleft 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080396",
          "MEDGEN:400499",
          "MESH:C566419",
          "OMIM:602966",
          "UMLS:C1864323"
        ],
        "synonyms": [
          "OFC2",
          "orofacial cleft 2",
          "cleft lip with or without cleft palate, nonsyndromic, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011276"
    },
    {
      "id": 13091,
      "label": "orofacial cleft 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080398",
          "MEDGEN:331228",
          "MESH:C564251",
          "OMIM:608371",
          "UMLS:C1842143"
        ],
        "synonyms": [
          "OFC4",
          "orofacial cleft 4",
          "cleft lip with or without cleft palate, nonsyndromic, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012022"
    },
    {
      "id": 13527,
      "label": "orofacial cleft 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080402",
          "MEDGEN:332079",
          "MESH:C563675",
          "OMIM:610361",
          "UMLS:C1835894"
        ],
        "synonyms": [
          "OFC9",
          "orofacial cleft 9",
          "cleft lip with or without cleft palate, nonsyndromic, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012478"
    },
    {
      "id": 14061,
      "label": "orofacial cleft 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080405",
          "MEDGEN:411596",
          "MESH:C567548",
          "OMIM:612858",
          "UMLS:C2748505"
        ],
        "synonyms": [
          "OFC12",
          "orofacial cleft 12",
          "cleft lip with or without cleft palate, nonsyndromic, 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013023"
    },
    {
      "id": 14497,
      "label": "orofacial cleft 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080406",
          "MEDGEN:462572",
          "OMIM:613857",
          "UMLS:C3151222"
        ],
        "synonyms": [
          "OFC13",
          "orofacial cleft 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013466"
    },
    {
      "id": 15390,
      "label": "familial median cleft of the upper and lower lips",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080407",
          "GARD:0017663",
          "MEDGEN:863033",
          "OMIM:615892",
          "Orphanet:401942",
          "UMLS:C4014596"
        ],
        "synonyms": [
          "OFC14",
          "orofacial cleft 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014388"
    },
    {
      "id": 16269,
      "label": "cleft lip and alveolus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2863,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016976",
          "ICD9:525.8",
          "MEDGEN:720590",
          "Orphanet:141291",
          "SCTID:373643003",
          "UMLS:C1298692",
          "icd11.foundation:1653169553"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015420"
    },
    {
      "id": 16680,
      "label": "cleft lip/palate",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2863,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017092",
          "ICD10CM:Q35-Q37",
          "ICD9:749.20",
          "ICD9:749.25",
          "MEDGEN:57640",
          "MedDRA:10009260",
          "Orphanet:199306",
          "SCTID:66948001",
          "UMLS:C0158646"
        ],
        "synonyms": [
          "FLP",
          "alveolar cleft lip and palate",
          "cleft lip and palate",
          "cleft lip-alveolus-palate syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016044"
    },
    {
      "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"
    },
    {
      "id": 21788,
      "label": "orofacial cleft 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080401",
          "GARD:0018308",
          "MEDGEN:377541",
          "OMIM:618149",
          "UMLS:C1851878"
        ],
        "synonyms": [
          "Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8",
          "OFC8",
          "OROFACIAL CLEFT 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0029145"
    },
    {
      "id": 24303,
      "label": "GRHL3-related orofacial clefting",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any orofacial clefting in which the cause of the disease is a mutation in the GRHL3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100579"
    },
    {
      "id": 24646,
      "label": "orofacial cleft 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080400",
          "MEDGEN:371589",
          "UMLS:C1833538"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700251"
    },
    {
      "id": 29309,
      "label": "ARHGAP29-related non-syndromic orofacial cleft",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2863
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any orofacial cleft in which the cause of the disease is a mutation in the ARHGAP29 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:1060132"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 21213,
      "label": "disorder of facial skeleton"
    }
  ]
}