{
  "id": 8950,
  "label": "primary familial polycythemia due to EPO receptor mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007572",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3363,
      "label": "familial polycythemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7218
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 16,
      "reference_id": "MONDO:0001115"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3363,
      "label": "familial polycythemia"
    }
  ]
}