{
  "id": 17729,
  "label": "popliteal pterygium syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017435",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16118,
      "label": "arthrogryposis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019870",
          "Orphanet:109007",
          "icd11.foundation:1692487835"
        ],
        "synonyms": [
          "arthrogryposis syndrome"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0015225"
    },
    {
      "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": 8729,
      "label": "autosomal dominant popliteal pterygium syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16088,
        17729
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003242",
          "MEDGEN:1844082",
          "OMIM:119500",
          "Orphanet:1300",
          "SCTID:718222000",
          "UMLS:C5848052",
          "icd11.foundation:2069589860"
        ],
        "synonyms": [
          "facio-genito-popliteal syndrome",
          "popliteal pterygium syndrome 1",
          "popliteal pterygium syndrome, autosomal dominant",
          "popliteal web syndrome",
          "PPS",
          "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies",
          "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies",
          "faciogenitopopliteal syndrome",
          "popliteal pterygium syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007334"
    },
    {
      "id": 11104,
      "label": "Bartsocas-Papas syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17729,
        19138,
        23110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004436",
          "MEDGEN:337894",
          "MESH:C564874",
          "NCIT:C168990",
          "OMIM:263650",
          "Orphanet:1234",
          "SCTID:722376008",
          "UMLS:C1849718"
        ],
        "synonyms": [
          "Bartsocas Papas syndrome",
          "Bartsocas-Papas syndrome",
          "autosomal recessive popliteal pterygium syndrome",
          "lethal popliteal pterygium syndrome",
          "popliteal pterygium syndrome, Bartsocas-Papas type 1",
          "popliteal pterygium syndrome, lethal type",
          "BPS",
          "multiple pterygium syndrome, Aslan type",
          "popliteal pterygium syndrome lethal type",
          "popliteal pterygium syndrome, Bartsocas-Papas type",
          "pterygium popliteal lethal type",
          "pterygium, popliteal, lethal type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009901"
    },
    {
      "id": 25298,
      "label": "Bartsocas-Papas syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17729
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016444",
          "MEDGEN:1778443",
          "OMIM:619339",
          "UMLS:C5543445"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859154"
    }
  ],
  "roots": [
    {
      "id": 16118,
      "label": "arthrogryposis syndrome"
    },
    {
      "id": 29242,
      "label": "IRF6-related condition"
    }
  ]
}