{
  "id": 18943,
  "label": "thrombocytopenia with congenital dyserythropoietic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019031",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11478,
      "label": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010308"
    },
    {
      "id": 19232,
      "label": "congenital dyserythropoietic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5573
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1338",
          "GARD:0001999",
          "ICD10CM:D64.4",
          "ICD9:285.8",
          "MEDGEN:8064",
          "MESH:D000742",
          "NANDO:1200885",
          "NANDO:2100178",
          "NANDO:2200615",
          "NCIT:C84646",
          "OMIMPS:224120",
          "Orphanet:85",
          "SCTID:52951008",
          "UMLS:C0002876",
          "icd11.foundation:899830967"
        ],
        "synonyms": [
          "CDA",
          "anemia, congenital dyserythropoietic",
          "congenital dyshaematopoietic anaemia",
          "congenital dyshaematopoietic anemia",
          "dyserythropoietic anemia, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA."
      },
      "child_count": 9,
      "reference_id": "MONDO:0019403"
    },
    {
      "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": 11478,
      "label": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia"
    },
    {
      "id": 19232,
      "label": "congenital dyserythropoietic anemia"
    },
    {
      "id": 23840,
      "label": "GATA1-Related X-Linked Cytopenia"
    }
  ]
}