{
  "id": 11306,
  "label": "congenital thrombotic thrombocytopenic purpura",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010122",
  "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."
  },
  "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": 10564,
      "label": "congenital hematological disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:760584",
          "NCIT:C104003",
          "UMLS:C3267032"
        ],
        "synonyms": [
          "congenital haematological system disease",
          "congenital hematological disorder",
          "congenital hematological system disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disorder of the blood that is present at birth."
      },
      "child_count": 21,
      "reference_id": "MONDO:0009332"
    },
    {
      "id": 18824,
      "label": "thrombotic thrombocytopenic purpura",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4413,
        23244
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10772",
          "GARD:0016659",
          "MEDGEN:48266",
          "MESH:D011697",
          "MedDRA:10043648",
          "NANDO:1200316",
          "NANDO:2100189",
          "NANDO:2200649",
          "NCIT:C78797",
          "NORD:1769",
          "Orphanet:54057",
          "SCTID:78129009",
          "UMLS:C0034155",
          "icd11.foundation:1708277768"
        ],
        "synonyms": [
          "Moschcowitz disease",
          "Moschowitz disease",
          "TTP"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018896"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2214",
          "GARD:0020319",
          "MEDGEN:163105",
          "MESH:D025861",
          "Orphanet:183654",
          "UMLS:C0852077"
        ],
        "synonyms": [
          "coagulation disorder, hereditary",
          "coagulation disorder, inherited",
          "coagulation disorders, hereditary",
          "coagulation disorders, inherited",
          "hereditary blood coagulation disease",
          "hereditary blood coagulation disorders",
          "hereditary coagulation disorder",
          "hereditary coagulation disorders",
          "inherited blood coagulation disorders",
          "inherited coagulation disorder",
          "inherited coagulation disorders",
          "rare genetic coagulation disorder",
          "inherited blood coagulation disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."
      },
      "child_count": 78,
      "reference_id": "MONDO:0021181"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 2702,
      "label": "inherited bleeding disorder, platelet-type"
    },
    {
      "id": 10564,
      "label": "congenital hematological disorder"
    },
    {
      "id": 18824,
      "label": "thrombotic thrombocytopenic purpura"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    },
    {
      "id": 23981,
      "label": "inherited thrombocytopenia"
    }
  ]
}