{
  "id": 19325,
  "label": "van der Woude syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019508",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 29242,
      "label": "IRF6-related condition",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Van der Woude syndrome, popliteal pterygium syndrome, cleft lip with or without palate, or a spectrum of one or two of those conditions in which the cause of the disease is a mutation in the IRF6 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1040010"
    }
  ],
  "children": [
    {
      "id": 8728,
      "label": "van der Woude syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19325
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007333"
    },
    {
      "id": 12799,
      "label": "van der Woude syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19325
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007846",
          "MEDGEN:338272",
          "MESH:C536529",
          "OMIM:606713",
          "UMLS:C1847604"
        ],
        "synonyms": [
          "GRHL3 van der Woude syndrome",
          "Van Der Woude syndrome type 2",
          "van der Woude syndrome 2",
          "van der Woude syndrome caused by mutation in GRHL3",
          "VAN DER Woude syndrome 2",
          "VWS2"
        ],
        "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 GRHL3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011712"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 29242,
      "label": "IRF6-related condition"
    }
  ]
}