{
  "id": 3363,
  "label": "familial polycythemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001115",
  "properties": {
    "xrefs": [
      "DOID:10780",
      "GARD:0022884",
      "ICD10CM:D75.0",
      "MEDGEN:57520",
      "NANDO:2100187",
      "NANDO:2200644",
      "NCIT:C26955",
      "OMIMPS:133100",
      "UMLS:C0152264"
    ],
    "synonyms": [
      "erythrocytosis, familial",
      "familial polycythemia",
      "hereditary polycythemia (disease)",
      "primary polycythemia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Polycythemia that occurs in groups of related individuals."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "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"
    },
    {
      "id": 7218,
      "label": "polycythemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5177
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8432",
          "EFO:0005804",
          "HP:0001901",
          "MEDGEN:18552",
          "MESH:D011086",
          "MedDRA:10036051",
          "NCIT:C26863",
          "Orphanet:98427",
          "UMLS:C0032461"
        ],
        "synonyms": [
          "polycythemia",
          "polycythemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume."
      },
      "child_count": 5,
      "reference_id": "MONDO:0005571"
    }
  ],
  "children": [
    {
      "id": 8950,
      "label": "primary familial polycythemia due to EPO receptor mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060652",
          "GARD:0009843",
          "ICD9:289.6",
          "MEDGEN:1641215",
          "OMIM:133100",
          "Orphanet:90042",
          "SCTID:17342003",
          "UMLS:C4551637",
          "icd11.foundation:962836252"
        ],
        "synonyms": [
          "EPOR familial polycythemia",
          "PFCP",
          "congenital erythrocytosis due to erythropoietin receptor mutation",
          "congenital polycythemia due to erythropoietin receptor mutation",
          "erythrocytosis, familial, 1",
          "erythrocytosis, familial, type 1",
          "erythrocytosis, somatic",
          "familial erythrocytosis",
          "familial erythrocytosis type 1",
          "familial erythrocytosis, 1",
          "familial polycythemia caused by mutation in EPOR",
          "primary congenital erythrocytosis",
          "primary familial and congenital polycythemia",
          "ECYT1",
          "autosomal dominant benign erythrocytosis",
          "erythrocytosis autosomal dominant benign",
          "erythrocytosis, autosomal dominant benign",
          "polycythemia, primary familial and congenital",
          "primary familial polycythemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007572"
    },
    {
      "id": 11094,
      "label": "acquired polycythemia vera",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3363,
        20110,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8997",
          "EFO:0002429",
          "GARD:0007422",
          "ICD10CM:D45",
          "ICD9:238.4",
          "ICDO:9950/3",
          "MEDGEN:45996",
          "MESH:D011087",
          "MedDRA:10036057",
          "NANDO:2100186",
          "NANDO:2200643",
          "NCIT:C3336",
          "OMIM:263300",
          "ONCOTREE:PV",
          "Orphanet:729",
          "UMLS:C0032463",
          "icd11.foundation:818364947"
        ],
        "synonyms": [
          "Osler-Vaquez disease",
          "PV",
          "Vaquez disease",
          "acquired primary erythrocytosis",
          "polycythaemia rubra vera",
          "polycythemia rubra vera",
          "polycythemia vera",
          "polycythemia vera, somatic",
          "PRV",
          "primary polycythemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009891"
    },
    {
      "id": 11095,
      "label": "Chuvash polycythemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3363,
        17035
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060474",
          "GARD:0017176",
          "MEDGEN:332974",
          "MESH:C563918",
          "OMIM:263400",
          "Orphanet:238557",
          "UMLS:C1837915"
        ],
        "synonyms": [
          "Chuvash polycythemia",
          "VHL familial polycythemia",
          "Von Hippel-Lindau-dependent polycythemia",
          "erythrocytosis, familial, type 2",
          "familial polycythemia caused by mutation in VHL",
          "Chuvash erythrocytosis",
          "ECYT2",
          "erythrocytosis, autosomal recessive benign",
          "erythrocytosis, familial, 2",
          "polycythemia, Chuvash type",
          "polycythemia, VHL-dependent"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009892"
    },
    {
      "id": 13407,
      "label": "erythrocytosis, familial, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080338",
          "GARD:0018355",
          "MEDGEN:377868",
          "MESH:C565221",
          "OMIM:609820",
          "UMLS:C1853286"
        ],
        "synonyms": [
          "EGLN1 familial polycythemia",
          "erythrocytosis, familial, 3",
          "erythrocytosis, familial, type 3",
          "familial polycythemia caused by mutation in EGLN1",
          "ECYT3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012353"
    },
    {
      "id": 13769,
      "label": "erythrocytosis, familial, 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080339",
          "GARD:0018356",
          "MEDGEN:435867",
          "MESH:C567086",
          "OMIM:611783",
          "UMLS:C2673187"
        ],
        "synonyms": [
          "EPAS1 familial polycythemia",
          "erythrocytosis, familial, 4",
          "erythrocytosis, familial, type 4",
          "familial polycythemia caused by mutation in EPAS1",
          "ECYT4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012729"
    },
    {
      "id": 22661,
      "label": "erythrocytosis, familial, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080290",
          "GARD:0025802",
          "MEDGEN:1638941",
          "OMIM:617907",
          "UMLS:C4693552"
        ],
        "synonyms": [
          "EPO familial polycythemia",
          "erythrocytosis, familial, 5",
          "familial polycythemia caused by mutation in EPO",
          "ECYT5",
          "familial erythrocytosis 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0033483"
    },
    {
      "id": 23628,
      "label": "erythrocytosis, familial, 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111632",
          "GARD:0025978",
          "MEDGEN:1634191",
          "OMIM:617980",
          "UMLS:C4693822"
        ],
        "synonyms": [
          "erythrocytosis 6",
          "ECYT6",
          "erythrocytosis, Beta-globin type",
          "erythrocytosis, FAMILIAL, 6",
          "polycythemia, Beta-globin type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054801"
    },
    {
      "id": 23629,
      "label": "erythrocytosis, familial, 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3363
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111631",
          "GARD:0025979",
          "MEDGEN:1642594",
          "OMIM:617981",
          "UMLS:C4693823"
        ],
        "synonyms": [
          "erythrocytosis 7",
          "ECYT7",
          "erythrocytosis, Alpha-globin type",
          "erythrocytosis, FAMILIAL, 7",
          "polycythemia, Alpha-globin type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054802"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7218,
      "label": "polycythemia"
    }
  ]
}