{
  "id": 15087,
  "label": "platelet-type bleeding disorder 15",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014078",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2702,
      "label": "inherited bleeding disorder, platelet-type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4360,
        4362,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2218",
          "GARD:0022702",
          "MEDGEN:610",
          "OMIMPS:231200",
          "UMLS:C0005818"
        ],
        "synonyms": [
          "blood platelet disease",
          "platelet disorder",
          "bleeding disorder, platelet-type",
          "thrombocytopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 84,
      "reference_id": "MONDO:0000009"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2702,
      "label": "inherited bleeding disorder, platelet-type"
    },
    {
      "id": 16227,
      "label": "autosomal dominant macrothrombocytopenia"
    }
  ]
}