{
  "id": 24801,
  "label": "macrothrombocytopenia, isolated, 1, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800047",
  "properties": {
    "xrefs": [
      "DOID:0090102",
      "GARD:0018271",
      "MEDGEN:1811721",
      "MESH:C567747",
      "OMIM:613112",
      "UMLS:C5676892"
    ],
    "synonyms": [
      "MACTHC1",
      "TUBB1 autosomal dominant macrothrombocytopenia",
      "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1",
      "macrothrombocytopenia, autosomal dominant, TUBB1-related",
      "autosomal dominant macrothrombocytopenia TUBB1-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16227,
      "label": "autosomal dominant macrothrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016965",
          "MEDGEN:929690",
          "Orphanet:140957",
          "SCTID:720521008",
          "UMLS:C4304021"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015372"
    },
    {
      "id": 22247,
      "label": "macrothrombocytopenia, isolated",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025700",
          "OMIMPS:613112"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0031447"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16227,
      "label": "autosomal dominant macrothrombocytopenia"
    },
    {
      "id": 22247,
      "label": "macrothrombocytopenia, isolated"
    }
  ]
}