{
  "id": 11604,
  "label": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010444",
  "properties": {
    "xrefs": [
      "DOID:0112156",
      "GARD:0017574",
      "MEDGEN:763770",
      "OMIM:300835",
      "Orphanet:363727",
      "UMLS:C3550856"
    ],
    "synonyms": [
      "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive",
      "XLANP",
      "anemia, X-linked, with or without neutropenia and/or platelet abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 19232,
      "label": "congenital dyserythropoietic anemia"
    },
    {
      "id": 23840,
      "label": "GATA1-Related X-Linked Cytopenia"
    }
  ]
}