{
  "id": 12651,
  "label": "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011555",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 10564,
      "label": "congenital hematological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:760584",
          "NCIT:C104003",
          "UMLS:C3267032"
        ],
        "synonyms": [
          "congenital haematological system disease",
          "congenital hematological disorder",
          "congenital hematological system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disorder of the blood that is present at birth."
      },
      "child_count": 21,
      "reference_id": "MONDO:0009332"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021967",
          "MEDGEN:1843101",
          "Orphanet:477794",
          "UMLS:C5681257"
        ],
        "synonyms": [
          "syndromic constitutional thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0018795"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 15749,
      "label": "radioulnar synostosis with amegakaryocytic thrombocytopenia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12651,
        24185
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014758"
    },
    {
      "id": 21503,
      "label": "radioulnar synostosis with amegakaryocytic thrombocytopenia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12651
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024558"
    }
  ],
  "roots": [
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}