{
  "id": 23840,
  "label": "GATA1-Related X-Linked Cytopenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100089",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 7217,
      "label": "hematologic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:74",
          "EFO:0005803",
          "GTR:AN1320635",
          "ICD10CM:D50-D89",
          "ICD9:280-289",
          "ICD9:289.8",
          "ICD9:289.9",
          "MEDGEN:5483",
          "MESH:D006402",
          "NANDO:1100006",
          "NANDO:2100175",
          "NCIT:C26323",
          "Orphanet:97992",
          "SCTID:414022008",
          "UMLS:C0018939"
        ],
        "synonyms": [
          "blood disease",
          "blood disorder",
          "disease of hematopoietic system",
          "disease of the blood and blood-forming organs",
          "disease or disorder of haematopoietic system",
          "disease or disorder of hematopoietic system",
          "disorder of haematopoietic system",
          "disorder of hematopoietic system",
          "haematological disease",
          "haematological disorder",
          "haematological system disease",
          "haematopoietic disease",
          "haematopoietic system disease or disorder",
          "hematologic and lymphocytic disorder",
          "hematologic disorder",
          "hematological disease",
          "hematological disorder",
          "hematological system disease",
          "hematopoietic disease",
          "hematopoietic system disease",
          "hematopoietic system disease or disorder",
          "rare hematologic disease",
          "haematological disorders and malignancies",
          "hematological disorders and malignancies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving the hematopoietic system."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005570"
    }
  ],
  "children": [
    {
      "id": 11604,
      "label": "X-linked dyserythropoetic anemia with abnormal platelets and neutropenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19232,
        23840
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010444"
    },
    {
      "id": 11885,
      "label": "beta-thalassemia-X-linked thrombocytopenia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17501,
        23840
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010745"
    },
    {
      "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": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7217,
      "label": "hematologic disorder"
    }
  ]
}