{
  "id": 25040,
  "label": "congenital amegakaryocytic thrombocytopenia 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800452",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10564,
      "label": "congenital hematological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:760584",
          "NCIT:C104003",
          "UMLS:C3267032"
        ],
        "synonyms": [
          "congenital haematological system disease",
          "congenital hematological disorder",
          "congenital hematological system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disorder of the blood that is present at birth."
      },
      "child_count": 21,
      "reference_id": "MONDO:0009332"
    },
    {
      "id": 25039,
      "label": "congenital amegakaryocytic thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026560",
          "MEDGEN:272171",
          "OMIMPS:604498",
          "UMLS:C1327915",
          "icd11.foundation:801723173"
        ],
        "synonyms": [
          "congenital amegakaryocytic thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0800451"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    },
    {
      "id": 25039,
      "label": "congenital amegakaryocytic thrombocytopenia"
    }
  ]
}