{
  "id": 11885,
  "label": "beta-thalassemia-X-linked thrombocytopenia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010745",
  "properties": {
    "xrefs": [
      "DOID:0111767",
      "GARD:0017166",
      "MEDGEN:326415",
      "MESH:C564050",
      "NCIT:C134941",
      "OMIM:314050",
      "Orphanet:231393",
      "SCTID:718196002",
      "UMLS:C1839161",
      "icd11.foundation:905057212"
    ],
    "synonyms": [
      "X-linked thrombocytopenia with Beta-thalassemia",
      "XLTT",
      "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive",
      "thrombocytopenia with BETA-thalassemia, X-linked",
      "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17501,
      "label": "beta-thalassemia and related diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4394,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021023",
          "MEDGEN:1826095",
          "Orphanet:275749",
          "UMLS:C5680748"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0017145"
    },
    {
      "id": 23840,
      "label": "GATA1-Related X-Linked Cytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026040",
          "MEDGEN:335283",
          "UMLS:C1845837"
        ],
        "synonyms": [
          "GATA1-Related Cytopenia",
          "GATA1-Related X-Linked Cytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100089"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17501,
      "label": "beta-thalassemia and related diseases"
    },
    {
      "id": 23840,
      "label": "GATA1-Related X-Linked Cytopenia"
    }
  ]
}