{
  "id": 8728,
  "label": "van der Woude syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007333",
  "properties": {
    "xrefs": [
      "GARD:0024552",
      "MEDGEN:1640616",
      "OMIM:119300",
      "UMLS:C4551864"
    ],
    "synonyms": [
      "IRF6 van der Woude syndrome",
      "Van Der Woude syndrome type 1",
      "van der Woude syndrome 1",
      "van der Woude syndrome caused by mutation in IRF6",
      "VAN DER Woude syndrome 1",
      "VWS1",
      "Vdws",
      "cleft lip and/or palate with mucous cysts of Lower lip",
      "lip-pit syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19325,
      "label": "van der Woude syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16089,
        29242
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060239",
          "GARD:0008414",
          "ICD9:744.89",
          "MEDGEN:61233",
          "MESH:C536528",
          "NCIT:C74986",
          "OMIMPS:119300",
          "Orphanet:888",
          "SCTID:79261008",
          "UMLS:C0175697",
          "icd11.foundation:133440037"
        ],
        "synonyms": [
          "VWS",
          "cleft lip/palate with mucous cysts of lower lip",
          "lip-pit syndrome",
          "LPS",
          "cleft lip and/or palate with mucous cysts of lower lip",
          "lip pit syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019508"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19325,
      "label": "van der Woude syndrome"
    }
  ]
}