{
  "id": 8729,
  "label": "autosomal dominant popliteal pterygium syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007334",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 17729,
      "label": "popliteal pterygium syndrome"
    }
  ]
}