{
  "id": 15749,
  "label": "radioulnar synostosis with amegakaryocytic thrombocytopenia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014758",
  "properties": {
    "xrefs": [
      "GARD:0018069",
      "MEDGEN:901732",
      "OMIM:616738",
      "UMLS:C4225221"
    ],
    "synonyms": [
      "MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome",
      "RUSAT2",
      "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM",
      "radioulnar synostosis with amegakaryocytic thrombocytopenia 2",
      "radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2",
      "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2"
    ],
    "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 MECOM 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"
    },
    {
      "id": 24185,
      "label": "MECOM-associated syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100458"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12651,
      "label": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"
    },
    {
      "id": 24185,
      "label": "MECOM-associated syndrome"
    }
  ]
}