{
  "id": 11129,
  "label": "autosomal recessive multiple pterygium syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009926",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 17720,
      "label": "multiple pterygium syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080110",
          "GARD:0021177",
          "ICD9:755.8",
          "MEDGEN:1852087",
          "MESH:C537377",
          "NORD:1632",
          "Orphanet:294060",
          "SCTID:205819008",
          "UMLS:C5848053",
          "icd11.foundation:834369371"
        ],
        "synonyms": [
          "Pterygium Syndrome, Multiple",
          "pterygium syndrome"
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0017415"
    }
  ],
  "children": [
    {
      "id": 20149,
      "label": "contractures, pterygia, and variable skeletal fusions syndrome 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11129,
        20245
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020746"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 17720,
      "label": "multiple pterygium syndrome"
    }
  ]
}