{
  "id": 11598,
  "label": "paroxysmal nocturnal hemoglobinuria 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010438",
  "properties": {
    "xrefs": [
      "GARD:0024726",
      "MEDGEN:813000",
      "OMIM:300818",
      "UMLS:C3806670"
    ],
    "synonyms": [
      "PIGA paroxysmal nocturnal hemoglobinuria",
      "pIgA paroxysmal nocturnal hemoglobinuria",
      "paroxysmal nocturnal hemoglobinuria 1",
      "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA",
      "paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA",
      "paroxysmal nocturnal hemoglobinuria type 1",
      "paroxysmal nocturnal hemoglobinuria, somatic",
      "PNH1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23983,
      "label": "paroxysmal nocturnal hemoglobinuria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5544,
        5550,
        7996,
        16404,
        21353
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060284",
          "GARD:0007337",
          "HGNC:8957",
          "HP:0004818",
          "ICD10CM:D59.5",
          "MEDGEN:7471",
          "MedDRA:10034042",
          "NCIT:C61233",
          "NORD:1557",
          "OMIMPS:300818",
          "Orphanet:447",
          "SCTID:1963002",
          "UMLS:C0024790",
          "icd11.foundation:859588467"
        ],
        "synonyms": [
          "Marchiafava-Micheli disease",
          "PNH",
          "acquired paroxysmal nocturnal hemoglobinuria",
          "hereditary paroxysmal nocturnal hemoglobinuria",
          "inherited paroxysmal nocturnal hemoglobinuria",
          "paroxysmal hemoglobinuria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events."
      },
      "child_count": 10,
      "reference_id": "MONDO:0100244"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23983,
      "label": "paroxysmal nocturnal hemoglobinuria"
    }
  ]
}