{
  "id": 15173,
  "label": "paroxysmal nocturnal hemoglobinuria 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014166",
  "properties": {
    "xrefs": [
      "GARD:0015958",
      "MEDGEN:815699",
      "OMIM:615399",
      "UMLS:C3809369"
    ],
    "synonyms": [
      "PIGT paroxysmal nocturnal hemoglobinuria",
      "paroxysmal nocturnal hemoglobinuria 2",
      "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation",
      "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT",
      "paroxysmal nocturnal hemoglobinuria type 2",
      "PNH2"
    ],
    "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 PIGT 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"
    }
  ]
}