{
  "id": 16227,
  "label": "autosomal dominant macrothrombocytopenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015372",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 15087,
      "label": "platelet-type bleeding disorder 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        16227
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111053",
          "GARD:0018272",
          "MEDGEN:767577",
          "NANDO:2200665",
          "OMIM:615193",
          "UMLS:C3554663"
        ],
        "synonyms": [
          "ACTN1 inherited bleeding disorder, platelet-type",
          "BDPLT15",
          "inherited bleeding disorder, platelet-type caused by mutation in ACTN1",
          "platelet-type bleeding disorder 15",
          "bleeding disorder, platelet-type, 15",
          "macrothrombocytopenia, autosomal dominant, ACTN1-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014078"
    },
    {
      "id": 22058,
      "label": "macrothrombocytopenia, isolated, 2, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16227,
        22247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060995",
          "GARD:0025645",
          "MEDGEN:1802965",
          "OMIM:619840",
          "UMLS:C5676968"
        ],
        "synonyms": [
          "MACTHC2",
          "macrothrombocytopenia, isolated, 2, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030827"
    },
    {
      "id": 24801,
      "label": "macrothrombocytopenia, isolated, 1, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16227,
        22247
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800047"
    }
  ],
  "roots": [
    {
      "id": 23981,
      "label": "inherited thrombocytopenia"
    }
  ]
}