{
  "id": 29242,
  "label": "IRF6-related condition",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040010",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 17729,
      "label": "popliteal pterygium syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16118,
        29242
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060055",
          "GARD:0021189",
          "ICD9:756.89",
          "MEDGEN:78543",
          "MESH:C562509",
          "NCIT:C118786",
          "Orphanet:294963",
          "SCTID:66783006",
          "UMLS:C0265259",
          "icd11.foundation:543218573"
        ],
        "synonyms": [
          "PPS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017435"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}