{
  "id": 11104,
  "label": "Bartsocas-Papas syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009901",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    },
    {
      "id": 23110,
      "label": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021947",
          "MEDGEN:1843298",
          "Orphanet:471383",
          "UMLS:C5681265"
        ],
        "synonyms": [
          "genetic lethal multiple congenital anomalies/dysmorphic syndrome"
        ],
        "definition": "An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 10,
      "reference_id": "MONDO:0043009"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17729,
      "label": "popliteal pterygium syndrome"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    },
    {
      "id": 23110,
      "label": "hereditary lethal multiple congenital anomalies/dysmorphic syndrome"
    }
  ]
}