{
  "id": 19741,
  "label": "alpha granule disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020117",
  "properties": {
    "xrefs": [
      "GARD:0019469",
      "MEDGEN:1842309",
      "Orphanet:98455",
      "UMLS:C5681720",
      "icd11.foundation:237567451"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 9042,
      "label": "gray platelet syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        4370,
        19741
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111044",
          "GARD:0002562",
          "MEDGEN:82900",
          "MESH:D055652",
          "NCIT:C84741",
          "OMIM:139090",
          "Orphanet:721",
          "SCTID:51720005",
          "UMLS:C0272302",
          "icd11.foundation:1818085572"
        ],
        "synonyms": [
          "Alpha storage pool deficiency",
          "BDPLT4",
          "GPS",
          "gray platelet syndrome",
          "platelet alpha-granule deficiency",
          "bleeding disorder, Platelet-type, 4",
          "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007686"
    },
    {
      "id": 9844,
      "label": "Paris-Trousseau thrombocytopenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17329,
        19741
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004224",
          "MEDGEN:365037",
          "OMIM:188025",
          "Orphanet:851",
          "UMLS:C1956093",
          "icd11.foundation:1441183910"
        ],
        "synonyms": [
          "thrombocytopenia, Paris-Trousseau type, Isolated cases",
          "Paris-Trousseau syndrome",
          "TCPT",
          "chromosome 11q23 deletion syndrome",
          "thrombocytopenia Paris-Trousseau type",
          "thrombocytopenia, Paris-TROUSSEAU type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008557"
    },
    {
      "id": 12259,
      "label": "Quebec platelet disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        19741
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111050",
          "GARD:0008345",
          "MEDGEN:356528",
          "MESH:C536260",
          "OMIM:601709",
          "Orphanet:220436",
          "UMLS:C1866423",
          "icd11.foundation:1618741944"
        ],
        "synonyms": [
          "BDPLT5",
          "Quebec platelet disorder",
          "factor V Quebec",
          "QPD",
          "bleeding disorder, platelet-type, 5",
          "factor 5 Quebec"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011136"
    },
    {
      "id": 18387,
      "label": "Medich giant platelet syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19741
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021598",
          "MEDGEN:931044",
          "Orphanet:370127",
          "SCTID:718554005",
          "UMLS:C4305375"
        ],
        "synonyms": [
          "Medich macrothrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018268"
    },
    {
      "id": 18388,
      "label": "white platelet syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19741
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009282",
          "MEDGEN:419379",
          "MESH:C536702",
          "Orphanet:370131",
          "SCTID:718553004",
          "UMLS:C2931293"
        ],
        "synonyms": [
          "platelet granule deficiency disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018269"
    }
  ],
  "roots": [
    {
      "id": 23981,
      "label": "inherited thrombocytopenia"
    }
  ]
}