{
  "id": 9842,
  "label": "thrombocytopenia 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008555",
  "properties": {
    "xrefs": [
      "GARD:0005191",
      "MEDGEN:349976",
      "MESH:C536519",
      "NANDO:2200663",
      "NCIT:C129035",
      "OMIM:188000",
      "UMLS:C1861185"
    ],
    "synonyms": [
      "thrombocytopenia 2",
      "thrombocytopenia type 2",
      "THC2",
      "thrombocytopenia autosomal dominant 2",
      "thrombocytopenia, autosomal dominant, 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": [],
  "roots": [
    {
      "id": 23981,
      "label": "inherited thrombocytopenia"
    }
  ]
}