{
  "id": 2702,
  "label": "inherited bleeding disorder, platelet-type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000009",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 28,
  "parents": [
    {
      "id": 4360,
      "label": "hemorrhagic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2213",
          "ICD9:287.9",
          "MEDGEN:6799",
          "MESH:D006474",
          "NCIT:C115221",
          "UMLS:C0019087"
        ],
        "synonyms": [
          "bleeding diathesis",
          "bleeding disorder",
          "bleeding predisposition",
          "bleeding tendency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)."
      },
      "child_count": 28,
      "reference_id": "MONDO:0002243"
    },
    {
      "id": 4362,
      "label": "blood platelet disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:57492",
          "MESH:D001791",
          "NCIT:C131634",
          "SCTID:22716005",
          "UMLS:C0151854"
        ],
        "synonyms": [
          "platelet abnormality",
          "platelet disorder",
          "thrombocytopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Disorders caused by abnormalities in platelet count or function."
      },
      "child_count": 5,
      "reference_id": "MONDO:0002245"
    },
    {
      "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": 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": 9615,
      "label": "primary release disorder of platelets",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010357",
          "MEDGEN:356845",
          "MESH:C566759",
          "OMIM:176630",
          "UMLS:C1867770"
        ],
        "synonyms": [
          "primary release disorder of platelets",
          "bleeding disorder due to primary defects in platelet release mechanism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008309"
    },
    {
      "id": 9636,
      "label": "platelet-type von Willebrand disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        19371
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111056",
          "GARD:0008312",
          "MEDGEN:226914",
          "MESH:C536458",
          "NANDO:2200668",
          "NCIT:C131681",
          "OMIM:177820",
          "Orphanet:52530",
          "UMLS:C1280798"
        ],
        "synonyms": [
          "BDPLT3",
          "PT-VWD",
          "platelet type-von Willebrand disease",
          "platelet-type von Willebrand disease",
          "pseudo-von Willebrand disease",
          "pseudo-von Willebrand disease type 2B",
          "VWDP",
          "Von Willebrand disease, Platelet-type",
          "Von Willebrand disease, platelet type",
          "bleeding disorder, Platelet-type, 3",
          "platelet-type bleeding disorder 3",
          "pseudo-VON WILLEBRAND disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008332"
    },
    {
      "id": 9839,
      "label": "platelet-type bleeding disorder 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060691",
          "GARD:0024629",
          "MEDGEN:1781222",
          "MESH:C566061",
          "OMIM:187800",
          "UMLS:C5442010"
        ],
        "synonyms": [
          "bleeding disorder, platelet-type, 16, autosomal dominant",
          "platelet-type bleeding disorder 16",
          "BDPLT16",
          "Glanzmann thrombasthenia, autosomal dominant",
          "bleeding disorder, platelet-type, 16",
          "thrombasthenia of Glanzmann and Naegeli, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008552"
    },
    {
      "id": 9840,
      "label": "platelet-type bleeding disorder 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111049",
          "GARD:0015117",
          "MEDGEN:396078",
          "MESH:C566060",
          "NCIT:C142084",
          "OMIM:187900",
          "UMLS:C1861194"
        ],
        "synonyms": [
          "BDPLT17",
          "GFI1B inherited bleeding disorder, platelet-type",
          "bleeding disorder, platelet-type 17",
          "inherited bleeding disorder, platelet-type caused by mutation in GFI1B",
          "platelet-type bleeding disorder 17",
          "bleeding disorder, platelet-type, 17",
          "thrombasthenia-thrombocytopenia, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008553"
    },
    {
      "id": 10402,
      "label": "Ehlers-Danlos syndrome, fibronectinemic type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        19720,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008508",
          "MEDGEN:346497",
          "MESH:C565600",
          "OMIM:225310",
          "Orphanet:75501",
          "SCTID:83586000",
          "UMLS:C1857038"
        ],
        "synonyms": [
          "EDS X",
          "Ehlers-Danlos syndrome type 10",
          "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality",
          "Ehlers-Danlos syndrome, fibronectin-deficient",
          "EDS 10",
          "EDS10 (formerly)",
          "Ehlers-Danlos syndrome type 10 (formerly)",
          "Ehlers-Danlos syndrome, dysfibronectinemic type",
          "Ehlers-Danlos syndrome, type 10",
          "Ehlers-Danlos syndrome, type X (formerly)",
          "FN Abnormality"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009158"
    },
    {
      "id": 10517,
      "label": "Bernard-Soulier syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2702,
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2217",
          "GARD:0002470",
          "MEDGEN:2212",
          "MESH:D001606",
          "MedDRA:10057473",
          "NANDO:2200656",
          "NCIT:C84595",
          "NORD:851",
          "OMIM:231200",
          "Orphanet:274",
          "SCTID:234478007",
          "UMLS:C0005129",
          "icd11.foundation:507309898"
        ],
        "synonyms": [
          "Bernard-Soulier syndrome",
          "Bernard-Soulier syndrome, type A1 (recessive)",
          "Hemorrhagiparous thrombocytic dystrophy",
          "giant platelet disorder, isolated",
          "giant platelet syndrome",
          "BSS",
          "Bernard-Soulier syndrome, type A1",
          "Bernard-Soulier syndrome, type B",
          "Bernard-Soulier syndrome, type C",
          "Platelet glycoprotein 1b, deficiency of",
          "Platelet glycoprotein Ib deficiency",
          "Von Willebrand Factor receptor deficiency",
          "bleeding disorder, Platelet-type, 1",
          "deficiency of platelet glycoprotein 1b",
          "giant platelet disease",
          "glycoprotein Ib, Platelet, deficiency of",
          "macrothrombocytopenia, familial Bernard-Soulier type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009276"
    },
    {
      "id": 11088,
      "label": "Scott syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111052",
          "GARD:0004777",
          "MEDGEN:167107",
          "MESH:C563120",
          "NANDO:2200671",
          "OMIM:262890",
          "Orphanet:806",
          "SCTID:128098009",
          "UMLS:C0796149",
          "icd11.foundation:186013982"
        ],
        "synonyms": [
          "BDPLT7",
          "SCTS",
          "Scott syndrome",
          "prothrombin consumption deficiency",
          "Platelet factor X receptor deficiency",
          "bleeding Abnormality due to deficiency of Platelet binding of Factor 10",
          "bleeding disorder, Platelet-type, 7",
          "prothrombin consumption inhibitor, familial",
          "prothrombin conversion defect, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009885"
    },
    {
      "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": 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": 12684,
      "label": "platelet-type bleeding disorder 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111058",
          "GARD:0010575",
          "MEDGEN:414043",
          "MESH:C567786",
          "OMIM:605735",
          "UMLS:C2751535"
        ],
        "synonyms": [
          "BDPLT12",
          "PGHS1 deficiency",
          "platelet COX1 deficiency",
          "platelet cyclooxygenase 1 deficiency",
          "bleeding disorder, platelet-type, 12",
          "prostaglandin-endoperoxide synthase 1 deficiency, platelet"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011588"
    },
    {
      "id": 13099,
      "label": "platelet-type bleeding disorder 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111046",
          "GARD:0024837",
          "MEDGEN:374856",
          "MESH:C564245",
          "OMIM:608404",
          "UMLS:C1842090"
        ],
        "synonyms": [
          "BDPLT10",
          "CD36 deficiency",
          "CD36 inherited bleeding disorder, platelet-type",
          "inherited bleeding disorder, platelet-type caused by mutation in CD36",
          "platelet-type bleeding disorder 10",
          "bleeding disorder, Platelet-type, 10",
          "platelet glycoprotein 4 deficiency"
        ],
        "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 CD36 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012031"
    },
    {
      "id": 13408,
      "label": "platelet-type bleeding disorder 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060692",
          "GARD:0012478",
          "MEDGEN:344008",
          "MESH:C565220",
          "NANDO:2200669",
          "OMIM:609821",
          "Orphanet:36355",
          "SCTID:725291001",
          "UMLS:C1853278"
        ],
        "synonyms": [
          "platelet-type bleeding disorder 8",
          "BDPLT8",
          "bleeding disorder due to P2Rx1 defect, somatic",
          "bleeding disorder due to P2Ry12 defect",
          "bleeding disorder, platelet-type 8",
          "bleeding disorder, platelet-type, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012354"
    },
    {
      "id": 14623,
      "label": "platelet-type bleeding disorder 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111047",
          "GARD:0024935",
          "MEDGEN:98307",
          "MESH:C562866",
          "OMIM:614158",
          "SCTID:234477002",
          "UMLS:C0398635"
        ],
        "synonyms": [
          "BDPLT14",
          "TBXAS1 inherited bleeding disorder, platelet-type",
          "inherited bleeding disorder, platelet-type caused by mutation in TBXAS1",
          "bleeding disorder, platelet-type, 14",
          "thromboxane synthetase deficiency"
        ],
        "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 TBXAS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013597"
    },
    {
      "id": 14647,
      "label": "platelet-type bleeding disorder 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111045",
          "GARD:0016868",
          "MEDGEN:481744",
          "MESH:C566000",
          "OMIM:614200",
          "Orphanet:98886",
          "UMLS:C3280114"
        ],
        "synonyms": [
          "BDPLT9",
          "GP Ia deficiency",
          "collagen platelet receptor deficiency",
          "glycoprotein Ia deficiency",
          "bleeding disorder, platelet-type, 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013622"
    },
    {
      "id": 14648,
      "label": "platelet-type bleeding disorder 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111057",
          "GARD:0013293",
          "MEDGEN:481750",
          "NANDO:2200670",
          "OMIM:614201",
          "Orphanet:98885",
          "SCTID:765977002",
          "UMLS:C3280120"
        ],
        "synonyms": [
          "BDPLT11",
          "GP6 inherited bleeding disorder, platelet-type",
          "inherited bleeding disorder, platelet-type caused by mutation in GP6",
          "platelet-type bleeding disorder 11",
          "GP 6 deficiency",
          "bleeding diathesis due to glycoprotein VI deficiency",
          "bleeding disorder, platelet-type, 11",
          "glycoprotein 6 deficiency",
          "platelet-type bleeding disorder-11"
        ],
        "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 GP6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013623"
    },
    {
      "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": 15388,
      "label": "platelet-type bleeding disorder 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111051",
          "GARD:0017695",
          "MEDGEN:863021",
          "OMIM:615888",
          "Orphanet:420566",
          "UMLS:C4014584"
        ],
        "synonyms": [
          "BDPLT18",
          "RASGRP2 inherited bleeding disorder, platelet-type",
          "bleeding disorder due to CalDAG-GEFI deficiency",
          "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency",
          "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2",
          "platelet-type bleeding disorder 18",
          "bleeding disorder, platelet-type, 18"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014386"
    },
    {
      "id": 15517,
      "label": "platelet-type bleeding disorder 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111048",
          "GARD:0017738",
          "MEDGEN:863842",
          "OMIM:616176",
          "Orphanet:438207",
          "UMLS:C4015405"
        ],
        "synonyms": [
          "BDPLT19",
          "PRKACG isolated hereditary giant platelet disorder",
          "isolated hereditary giant platelet disorder caused by mutation in PRKACG",
          "severe autosomal recessive macrothrombocytopenia",
          "bleeding disorder, platelet-type, 19"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014518"
    },
    {
      "id": 15815,
      "label": "platelet-type bleeding disorder 20",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111055",
          "GARD:0018491",
          "MEDGEN:934764",
          "OMIM:616913",
          "Orphanet:466806",
          "UMLS:C4310797"
        ],
        "synonyms": [
          "BDPLT20",
          "SLFN14 inherited bleeding disorder, platelet-type",
          "autosomal dominant thrombocytopenia with platelet secretion defect",
          "bleeding disorder, platelet-type, 20",
          "inherited bleeding disorder, platelet-type caused by mutation in SLFN14"
        ],
        "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 SLFN14 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014830"
    },
    {
      "id": 16611,
      "label": "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        4370,
        18746
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060651",
          "EFO:0009646",
          "GARD:0000180",
          "ICD9:287.33",
          "ICD9:582.89",
          "ICD9:759.89",
          "MEDGEN:1704278",
          "MESH:C537831",
          "NCIT:C131646",
          "NCIT:C158788",
          "OMIM:153640",
          "OMIM:155100",
          "OMIM:600208",
          "OMIM:605249",
          "Orphanet:1019",
          "Orphanet:182050",
          "Orphanet:1984",
          "Orphanet:807",
          "Orphanet:850",
          "SCTID:234484005",
          "SCTID:234485006",
          "SCTID:236422008",
          "SCTID:712922002",
          "UMLS:C5200934"
        ],
        "synonyms": [
          "Epstein syndrome",
          "Fechtner syndrome",
          "MYH9-RD",
          "MYH9-related disease",
          "MYH9-related disorder",
          "MYH9-related syndrome",
          "MYH9-related syndromic thrombocytopenia",
          "May-Hegglin anomaly",
          "Sebastian platelet syndrome",
          "Sebastian syndrome",
          "giant platelet syndrome with thrombocytopenia",
          "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
          "macrothrombocytopenia and progressive sensorineural deafness",
          "Alport syndrome with macrothrombocytopenia",
          "Alport syndrome with macrothrombocytopenia, formerly",
          "Brodie Chole griffin syndrome",
          "Brodie Chole gryphon syndrome",
          "Dohle leukocyte inclusions with giant platelets",
          "FTNS",
          "MHA",
          "MYH9 related disorders",
          "MYH9 related thrombocytopenia",
          "May-Hegglin thrombocytopenia",
          "SBS",
          "bleeding disorder, Platelet-type, 6",
          "macrothrombocytopenia progressive deafness",
          "macrothrombocytopenia with dispersed leukocytic inclusions",
          "macrothrombocytopenia with leukocyte inclusions",
          "macrothrombocytopenia, nephritis, and deafness",
          "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions",
          "matins"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015912"
    },
    {
      "id": 18745,
      "label": "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702,
        6756,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017857",
          "MEDGEN:1799074",
          "OMIM:618372",
          "Orphanet:477787",
          "UMLS:C5567651"
        ],
        "synonyms": [
          "PLA2G4A-related platelet dysfunction",
          "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder",
          "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency",
          "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS",
          "GURDP",
          "Phospholipase A2, Group Iva, Deficiency of"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018794"
    },
    {
      "id": 22182,
      "label": "bleeding disorder, platelet-type, 24",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018273",
          "MEDGEN:1785711",
          "OMIM:619271",
          "UMLS:C5543280"
        ],
        "synonyms": [
          "BDPLT24",
          "Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2",
          "bleeding disorder, platelet-type, 24",
          "bleeding disorder, platelet-type, 24, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030996"
    },
    {
      "id": 22423,
      "label": "bleeding disorder, platelet-type, 22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025737",
          "MEDGEN:1673822",
          "OMIM:618462",
          "UMLS:C5193111"
        ],
        "synonyms": [
          "BDPLT22",
          "BLEEDING DISORDER, PLATELET-TYPE, 22"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032765"
    },
    {
      "id": 23564,
      "label": "bleeding disorder, platelet-type, 21",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016230",
          "MEDGEN:1386863",
          "OMIM:617443",
          "UMLS:C4479515"
        ],
        "synonyms": [
          "bleeding disorder, platelet-type, 21",
          "BDPLT21"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054577"
    },
    {
      "id": 24059,
      "label": "Glanzmann thrombasthenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2702,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002478",
          "MEDGEN:52736",
          "NORD:1186",
          "OMIMPS:273800",
          "Orphanet:849",
          "UMLS:C0040015",
          "icd11.foundation:1927726560"
        ],
        "synonyms": [
          "Glanzmann thrombasthenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0100326"
    },
    {
      "id": 25034,
      "label": "bleeding diathesis due to thromboxane synthesis deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017132",
          "MEDGEN:1678745",
          "Orphanet:220443",
          "UMLS:C5190857",
          "icd11.foundation:1676860885"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800446"
    },
    {
      "id": 25729,
      "label": "bleeding disorder, platelet-type, 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2702
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026869",
          "MEDGEN:1846290",
          "OMIM:620486",
          "UMLS:C5882683"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957580"
    }
  ],
  "roots": [
    {
      "id": 4360,
      "label": "hemorrhagic disease"
    },
    {
      "id": 4362,
      "label": "blood platelet disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}