{
  "id": 9280,
  "label": "mastocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007950",
  "properties": {
    "xrefs": [
      "DOID:350",
      "EFO:0009001",
      "GARD:0006987",
      "ICD10WHO:Q82.2",
      "MEDGEN:9902",
      "MESH:D008415",
      "MedDRA:10026891",
      "NCIT:C84269",
      "NORD:1408",
      "ONCOTREE:MCD",
      "Orphanet:98292",
      "UMLS:C0024899",
      "icd11.foundation:691643472"
    ],
    "synonyms": [
      "Mast cell disease",
      "mastocytosis",
      "MAST cell disease",
      "urticaria pigmentosa"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4762,
      "label": "mast cell neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6892
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3664",
          "EFO:0009000",
          "GARD:0023222",
          "ICD9:238.79",
          "MEDGEN:83178",
          "NCIT:C9295",
          "SCTID:414653009",
          "UMLS:C0334664"
        ],
        "synonyms": [
          "Mast cell proliferative disease",
          "Mast cell tumor",
          "Mast cell tumour",
          "mast cell neoplasm",
          "mast cell tumor",
          "mast cell tumour",
          "neoplasm of Mast cells",
          "neoplasm of the Mast cells",
          "tumor of Mast cells",
          "tumor of the Mast cells",
          "tumour of Mast cells",
          "tumour of the Mast cells"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)"
      },
      "child_count": 2,
      "reference_id": "MONDO:0002724"
    },
    {
      "id": 6569,
      "label": "leukocyte disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9500",
          "ICD9:288",
          "ICD9:288.9",
          "MEDGEN:7325",
          "MESH:D007960",
          "SCTID:54097007",
          "UMLS:C0023510"
        ],
        "synonyms": [
          "disease of leukocyte",
          "disease or disorder of leukocyte",
          "disorder of leukocyte",
          "disorder, leukocyte",
          "disorders, leukocyte",
          "leukocyte disease",
          "leukocyte disease or disorder",
          "leukocyte disorder",
          "white blood cell disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving leukocytes."
      },
      "child_count": 46,
      "reference_id": "MONDO:0004805"
    }
  ],
  "children": [
    {
      "id": 17076,
      "label": "systemic mastocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9280
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:349",
          "GARD:0008616",
          "ICD10CM:D47.02",
          "MEDGEN:67436",
          "MedDRA:10042949",
          "NCIT:C9235",
          "ONCOTREE:SM",
          "Orphanet:2467",
          "SCTID:397016004",
          "UMLS:C0221013",
          "icd11.foundation:1144812971"
        ],
        "synonyms": [
          "Mast cell disease",
          "systemic mastocytosis",
          "systemic tissue Mast cell disease",
          "systemic tissue mast cell disease",
          "Aggressive systemic mastocytosis",
          "SM",
          "systemic mast cell disease",
          "systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement."
      },
      "child_count": 5,
      "reference_id": "MONDO:0016586"
    },
    {
      "id": 18936,
      "label": "cutaneous mastocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4409,
        7148,
        9280
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3663",
          "EFO:1000886",
          "GARD:0007842",
          "HP:0200151",
          "ICD10CM:D47.01",
          "ICDO:9740/1",
          "MEDGEN:210143",
          "MESH:D034701",
          "NCIT:C7137",
          "OMIM:154800",
          "ONCOTREE:CMCD",
          "Orphanet:66646",
          "SCTID:397012002",
          "UMLS:C1136033",
          "icd11.foundation:1300710062"
        ],
        "synonyms": [
          "CM",
          "cutaneous (skin) mastocytosis",
          "cutaneous mastocytosis",
          "cutaneous mastocytosis (disease)",
          "mastocytosis, cutaneous",
          "mastocytosis, systemic, somatic",
          "CMCD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis."
      },
      "child_count": 9,
      "reference_id": "MONDO:0019023"
    },
    {
      "id": 18937,
      "label": "mast cell sarcoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3028,
        6816,
        9280
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:355",
          "EFO:1000364",
          "GARD:0018870",
          "ICD10CM:C96.22",
          "ICD9:202.6",
          "ICDO:9740/3",
          "MEDGEN:11322",
          "MESH:D012515",
          "NCIT:C9348",
          "ONCOTREE:MCSL",
          "Orphanet:66661",
          "SCTID:118615008",
          "UMLS:C0036221",
          "icd11.foundation:1993363632",
          "icd11.foundation:233404891"
        ],
        "synonyms": [
          "MCS",
          "mast cell sarcoma",
          "mast-cell sarcoma",
          "sarcoma of mast cell",
          "MCSL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)"
      },
      "child_count": 0,
      "reference_id": "MONDO:0019024"
    },
    {
      "id": 22847,
      "label": "acute mast cell leukemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9280,
        20092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022276",
          "ICD10CM:C94.3",
          "MEDGEN:1843106",
          "Orphanet:566393",
          "UMLS:C5680128"
        ],
        "synonyms": [
          "Acute MCL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035444"
    },
    {
      "id": 22848,
      "label": "chronic mast cell leukemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        9280
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022277",
          "ICD10CM:C94.3",
          "MEDGEN:1843226",
          "Orphanet:566396",
          "UMLS:C5680130"
        ],
        "synonyms": [
          "Chronic MCL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035445"
    }
  ],
  "roots": [
    {
      "id": 4762,
      "label": "mast cell neoplasm"
    },
    {
      "id": 6569,
      "label": "leukocyte disorder"
    }
  ]
}