{
  "id": 25039,
  "label": "congenital amegakaryocytic thrombocytopenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800451",
  "properties": {
    "xrefs": [
      "GARD:0026560",
      "MEDGEN:272171",
      "OMIMPS:604498",
      "UMLS:C1327915",
      "icd11.foundation:801723173"
    ],
    "synonyms": [
      "congenital amegakaryocytic thrombocytopenia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "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": 25040,
      "label": "congenital amegakaryocytic thrombocytopenia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10564,
        25039
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061005",
          "DOID:0090118",
          "GARD:0000640",
          "MEDGEN:1845022",
          "MESH:C535982",
          "NCIT:C115207",
          "OMIM:604498",
          "Orphanet:3319",
          "SCTID:716336002",
          "UMLS:C5882667"
        ],
        "synonyms": [
          "CAMT1",
          "amegakaryocytic thrombocytopenia, congenital 1",
          "thrombocytopenia, congenital amegakaryocytic",
          "thrombocytopenia congenital amegakaryocytic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800452"
    }
  ],
  "roots": [
    {
      "id": 23981,
      "label": "inherited thrombocytopenia"
    }
  ]
}