{
  "id": 23983,
  "label": "paroxysmal nocturnal hemoglobinuria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100244",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5544,
      "label": "hemoglobinuria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5523
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:582",
          "ICD10CM:R82.3",
          "ICD9:791.2",
          "MEDGEN:6792",
          "MESH:D006456",
          "UMLS:C0019048"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ],
        "definition": "A laboratory test result which indicates free hemoglobin in the urine."
      },
      "child_count": 1,
      "reference_id": "MONDO:0003656"
    },
    {
      "id": 5550,
      "label": "hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5966
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:583",
          "GARD:0023610",
          "ICD10CM:D55-D59",
          "MEDGEN:1916",
          "MESH:D000743",
          "NANDO:2200636",
          "NCIT:C34376",
          "SCTID:61261009",
          "UMLS:C0002878"
        ],
        "synonyms": [
          "anaemia hemolytic",
          "anemia hemolytic",
          "anemia, hemolytic",
          "hemolytic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies."
      },
      "child_count": 11,
      "reference_id": "MONDO:0003664"
    },
    {
      "id": 7996,
      "label": "acquired metabolic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060158",
          "EFO:1000639"
        ],
        "synonyms": [
          "acquired metabolic disease"
        ],
        "definition": "An instance of metabolic disease that is acquired during the lifetime of the individual."
      },
      "child_count": 13,
      "reference_id": "MONDO:0006504"
    },
    {
      "id": 16404,
      "label": "acquired aplastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16610
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020058",
          "MEDGEN:543648",
          "NANDO:2201277",
          "Orphanet:164823",
          "SCTID:55907008",
          "UMLS:C0271907"
        ],
        "synonyms": [
          "acquired aplastic anemia",
          "rare acquired aplastic anaemia",
          "rare acquired aplastic anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An instance of aplastic anemia that is acquired during the lifetime of the individual."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015610"
    },
    {
      "id": 21353,
      "label": "disorder of GPI anchor biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        21354
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "GPI anchor biosynthetic process disease",
          "GPIBD",
          "disorder of GPI anchor biosynthetic process",
          "glycosylphosphatidylinositol biosynthesis defect"
        ],
        "definition": "A disease that has its basis in the disruption of GPI anchor biosynthetic process."
      },
      "child_count": 22,
      "reference_id": "MONDO:0024321"
    }
  ],
  "children": [
    {
      "id": 11598,
      "label": "paroxysmal nocturnal hemoglobinuria 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23983
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010438"
    },
    {
      "id": 15173,
      "label": "paroxysmal nocturnal hemoglobinuria 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23983
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014166"
    }
  ],
  "roots": [
    {
      "id": 5544,
      "label": "hemoglobinuria"
    },
    {
      "id": 5550,
      "label": "hemolytic anemia"
    },
    {
      "id": 7996,
      "label": "acquired metabolic disease"
    },
    {
      "id": 16404,
      "label": "acquired aplastic anemia"
    },
    {
      "id": 21353,
      "label": "disorder of GPI anchor biosynthesis"
    }
  ]
}