{
  "id": 11478,
  "label": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010308",
  "properties": {
    "xrefs": [
      "GARD:0024718",
      "MEDGEN:763703",
      "NCIT:C136653",
      "OMIM:300367",
      "UMLS:C3550789"
    ],
    "synonyms": [
      "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia",
      "X-linked thrombocytopenia, with or without dyserythropoietic Anemia",
      "thrombocytopenia, X-linked, with or without dyserythropoietic anemia",
      "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive",
      "XLTDA"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 23981,
      "label": "inherited thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4196,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026095",
          "OMIMPS:313900"
        ],
        "synonyms": [
          "hereditary thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An instance of thrombocytopenia that is inherited."
      },
      "child_count": 42,
      "reference_id": "MONDO:0100241"
    }
  ],
  "children": [
    {
      "id": 18943,
      "label": "thrombocytopenia with congenital dyserythropoietic anemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11478,
        19232,
        23840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016676",
          "MEDGEN:928177",
          "Orphanet:67044",
          "SCTID:722475006",
          "UMLS:C4302508"
        ],
        "synonyms": [
          "X-linked congenital dyserythropoietic anaemia with thrombocytopenia",
          "X-linked congenital dyserythropoietic anemia with thrombocytopenia",
          "XDAT",
          "congenital dyserythropoietic anaemia with thombocytopenia",
          "congenital dyserythropoietic anemia with thombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019031"
    }
  ],
  "roots": [
    {
      "id": 23981,
      "label": "inherited thrombocytopenia"
    }
  ]
}