{
  "id": 21503,
  "label": "radioulnar synostosis with amegakaryocytic thrombocytopenia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024558",
  "properties": {
    "xrefs": [
      "GARD:0018068",
      "MEDGEN:1637913",
      "OMIM:605432",
      "UMLS:C4551975"
    ],
    "synonyms": [
      "HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome",
      "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11",
      "radioulnar synostosis with amegakaryocytic thrombocytopenia 1",
      "RUSAT1",
      "Rusat",
      "thrombocytopenia, congenital, with radioulnar synostosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12651,
      "label": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        10564,
        18362,
        18746,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016687",
          "MEDGEN:340183",
          "MESH:C565328",
          "NANDO:2200660",
          "OMIMPS:605432",
          "Orphanet:71289",
          "SCTID:721882001",
          "UMLS:C1854273"
        ],
        "synonyms": [
          "ATRUS syndrome",
          "RUSAT",
          "radioulnar synostosis with amegakaryocytic thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0011555"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12651,
      "label": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"
    }
  ]
}