{
  "id": 20149,
  "label": "contractures, pterygia, and variable skeletal fusions syndrome 1B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020746",
  "properties": {
    "xrefs": [
      "DOID:0081322",
      "GARD:0025234",
      "MEDGEN:1676457",
      "OMIM:618469",
      "UMLS:C5193114"
    ],
    "synonyms": [
      "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11129,
      "label": "autosomal recessive multiple pterygium syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16089,
        17720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007111",
          "ICD9:759.89",
          "MEDGEN:82696",
          "NCIT:C101039",
          "OMIM:265000",
          "Orphanet:2990",
          "SCTID:80773006",
          "UMLS:C0265261",
          "icd11.foundation:1502158121"
        ],
        "synonyms": [
          "EVMPS",
          "Escobar syndrome",
          "Escobar variant multiple pterygium syndrome",
          "autosomal recessive multiple pterygium syndrome",
          "autosomal recessive non-lethal multiple pterygium syndrome",
          "multiple pterygium syndrome, autosomal recessive",
          "multiple pterygium syndrome",
          "multiple pterygium syndrome Escobar type",
          "multiple pterygium syndrome nonlethal type",
          "multiple pterygium syndrome, ESCOBAR variant",
          "multiple pterygium syndrome, Nonlethal type",
          "pterygium Universale",
          "pterygium colli syndrome",
          "pterygium syndrome",
          "pterygium universale"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009926"
    },
    {
      "id": 20245,
      "label": "contractures, pterygia, and variable skeletal fusions syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        17720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025269",
          "OMIMPS:178110"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0020937"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11129,
      "label": "autosomal recessive multiple pterygium syndrome"
    },
    {
      "id": 20245,
      "label": "contractures, pterygia, and variable skeletal fusions syndrome"
    }
  ]
}