{
  "id": 23981,
  "label": "inherited thrombocytopenia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100241",
  "properties": {
    "xrefs": [
      "GARD:0026095",
      "OMIMPS:313900"
    ],
    "synonyms": [
      "hereditary thrombocytopenia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An instance of thrombocytopenia that is inherited."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 21,
  "parents": [
    {
      "id": 4196,
      "label": "thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1588",
          "ICD9:287.5",
          "MEDGEN:52737",
          "MESH:D013921",
          "NCIT:C3408",
          "SCTID:302215000",
          "UMLS:C0040034",
          "icd11.foundation:683583694"
        ],
        "synonyms": [
          "platelet count decreased",
          "thrombocytopenic disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood."
      },
      "child_count": 6,
      "reference_id": "MONDO:0002049"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 9842,
      "label": "thrombocytopenia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008555"
    },
    {
      "id": 9843,
      "label": "thrombocytopenia, cyclic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009862",
          "ICD9:287.39",
          "MEDGEN:78799",
          "MESH:C536899",
          "NANDO:2100192",
          "NANDO:2200653",
          "OMIM:188020",
          "SCTID:48788004",
          "UMLS:C0272282"
        ],
        "synonyms": [
          "thrombocytopenia, cyclic",
          "cyclic thrombocytopenia",
          "thrombocytopenia cyclic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008556"
    },
    {
      "id": 11304,
      "label": "thrombocytopenia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018288",
          "MEDGEN:437174",
          "MESH:C567487",
          "OMIM:273900",
          "UMLS:C2678311"
        ],
        "synonyms": [
          "THC3",
          "thrombocytopenia 3",
          "thrombocytopenia, autosomal recessive, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010120"
    },
    {
      "id": 11306,
      "label": "congenital thrombotic thrombocytopenic purpura",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        10564,
        18824,
        20411,
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009430",
          "ICD9:287.33",
          "MEDGEN:224783",
          "NANDO:1200317",
          "NCIT:C131657",
          "OMIM:274150",
          "Orphanet:93583",
          "SCTID:373420004",
          "UMLS:C1268935"
        ],
        "synonyms": [
          "Upshaw-Schulman syndrome",
          "congenital ADAMTS-13 deficiency",
          "congenital ADAMTS13 deficiency",
          "congenital TTP",
          "congenital thrombotic thrombocytopenic purpura",
          "familial TTP",
          "hereditary thrombotic thrombocytopenic purpura",
          "thrombotic thrombocytopenic purpura, hereditary",
          "Microangiopathic hemolytic Anaemia",
          "Microangiopathic hemolytic Anemia",
          "Microangiopathic hemolytic Anemia, congenital",
          "Schulman-Upshaw syndrome",
          "TTP",
          "TTP, congenital",
          "USS",
          "Upshaw Factor, deficiency of",
          "thrombotic microangiopathy, familial",
          "thrombotic thrombocytopenic purpura, congenital",
          "thrombotic thrombocytopenic purpura, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010122"
    },
    {
      "id": 11478,
      "label": "thrombocytopenia, X-linked, with or without dyserythropoietic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024718",
          "MEDGEN:763703",
          "NCIT:C136653",
          "OMIM:300367",
          "UMLS:C3550789"
        ],
        "synonyms": [
          "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia",
          "X-linked thrombocytopenia, with or without dyserythropoietic Anemia",
          "thrombocytopenia, X-linked, with or without dyserythropoietic anemia",
          "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive",
          "XLTDA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present."
      },
      "child_count": 1,
      "reference_id": "MONDO:0010308"
    },
    {
      "id": 11883,
      "label": "thrombocytopenia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005176",
          "MEDGEN:326416",
          "MESH:C564052",
          "NCIT:C176617",
          "OMIM:313900",
          "Orphanet:852",
          "UMLS:C1839163"
        ],
        "synonyms": [
          "X-linked thrombocytopenia with normal platelets",
          "thrombocytopenia 1",
          "thrombocytopenia type 1",
          "thrombocytopenia, X-linked, X-linked recessive",
          "thrombocytopenia, X-linked, intermittent, X-linked recessive",
          "THC",
          "THC1",
          "X-linked thrombocytopenia",
          "XLT",
          "thrombocytopenia, X-linked",
          "thrombocytopenia, X-linked, 1",
          "thrombocytopenia, X-linked, intermittent"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010743"
    },
    {
      "id": 13815,
      "label": "thrombocytopenia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018289",
          "MEDGEN:394329",
          "MESH:C567438",
          "OMIM:612004",
          "UMLS:C2677608"
        ],
        "synonyms": [
          "CYCS thrombocytopenia",
          "thrombocytopenia 4",
          "thrombocytopenia caused by mutation in CYCS",
          "thrombocytopenia type 4",
          "THC4",
          "thrombocytopenia, autosomal dominant, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012775"
    },
    {
      "id": 15535,
      "label": "thrombocytopenia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12197,
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025000",
          "MEDGEN:863974",
          "NCIT:C203436",
          "OMIM:616216",
          "UMLS:C4015537"
        ],
        "synonyms": [
          "ETV6 thrombocytopenia",
          "thrombocytopenia 5",
          "thrombocytopenia caused by mutation in ETV6",
          "thrombocytopenia type 5",
          "THC5",
          "thrombocytopenia 5 with increased susceptibility to malignancy",
          "thrombocytopenia, autosomal dominant, 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014536"
    },
    {
      "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": 17109,
      "label": "isolated delta-storage pool disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020674",
          "Orphanet:248340",
          "icd11.foundation:2133567182"
        ],
        "synonyms": [
          "isolated delta-SPD",
          "isolated dense-SPD",
          "isolated dense-storage pool disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016630"
    },
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021967",
          "MEDGEN:1843101",
          "Orphanet:477794",
          "UMLS:C5681257"
        ],
        "synonyms": [
          "syndromic constitutional thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0018795"
    },
    {
      "id": 19741,
      "label": "alpha granule disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019469",
          "MEDGEN:1842309",
          "Orphanet:98455",
          "UMLS:C5681720",
          "icd11.foundation:237567451"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0020117"
    },
    {
      "id": 22081,
      "label": "thrombocytopenia 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018492",
          "MEDGEN:1768257",
          "OMIM:619130",
          "UMLS:C5436874"
        ],
        "synonyms": [
          "THC7",
          "Thrombocytopenia, Autosomal Dominant, 7",
          "thrombocytopenia 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030867"
    },
    {
      "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"
    },
    {
      "id": 22846,
      "label": "congenital autosomal recessive small-platelet thrombocytopenia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022274",
          "ICD10CM:D69.4",
          "MEDGEN:1802913",
          "Orphanet:566192",
          "UMLS:C5680129"
        ],
        "synonyms": [
          "CARST"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035441"
    },
    {
      "id": 25039,
      "label": "congenital amegakaryocytic thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026560",
          "MEDGEN:272171",
          "OMIMPS:604498",
          "UMLS:C1327915",
          "icd11.foundation:801723173"
        ],
        "synonyms": [
          "congenital amegakaryocytic thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0800451"
    },
    {
      "id": 25724,
      "label": "thrombocytopenia 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026866",
          "MEDGEN:1844414",
          "OMIM:620478",
          "UMLS:C5882678"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957572"
    },
    {
      "id": 25728,
      "label": "thrombocytopenia 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026868",
          "MEDGEN:1847819",
          "OMIM:620484",
          "UMLS:C5882682"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957578"
    },
    {
      "id": 25792,
      "label": "thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026906",
          "MEDGEN:1846947",
          "OMIM:620654",
          "UMLS:C5882734"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958000"
    },
    {
      "id": 25929,
      "label": "thrombocytopenia 12 with or without myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027007",
          "MEDGEN:1861803",
          "OMIM:620757",
          "UMLS:C5935593"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958325"
    },
    {
      "id": 25936,
      "label": "thrombocytopenia 13, syndromic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027013",
          "MEDGEN:1856296",
          "OMIM:620776",
          "UMLS:C5935599"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958333"
    }
  ],
  "roots": [
    {
      "id": 4196,
      "label": "thrombocytopenia"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}