{
  "id": 17076,
  "label": "systemic mastocytosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016586",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 9280,
      "label": "mastocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4762,
        6569
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 10,
      "reference_id": "MONDO:0007950"
    }
  ],
  "children": [
    {
      "id": 18938,
      "label": "extracutaneous mastocytoma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5066,
        17076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4659",
          "GARD:0018871",
          "ICDO:9740/1",
          "MEDGEN:75774",
          "NCIT:C7136",
          "Orphanet:66662",
          "SCTID:63175003",
          "UMLS:C0272202",
          "icd11.foundation:29932455"
        ],
        "synonyms": [
          "extracutaneous mastocytoma"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003"
      },
      "child_count": 0,
      "reference_id": "MONDO:0019025"
    },
    {
      "id": 19800,
      "label": "indolent systemic mastocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4660",
          "GARD:0019595",
          "ICDO:9741/1",
          "MEDGEN:82897",
          "MedDRA:10056452",
          "NCIT:C9286",
          "ONCOTREE:ISM",
          "Orphanet:98848",
          "SCTID:70910003",
          "UMLS:C0272203",
          "icd11.foundation:353283231"
        ],
        "synonyms": [
          "ISM",
          "indolent systemic mastocytosis (morphologic abnormality)",
          "ism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues."
      },
      "child_count": 2,
      "reference_id": "MONDO:0020331"
    },
    {
      "id": 19801,
      "label": "systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4797",
          "EFO:1000559",
          "GARD:0019596",
          "ICDO:9741/3",
          "MEDGEN:226985",
          "NCIT:C9284",
          "ONCOTREE:SMAHN",
          "Orphanet:98849",
          "SCTID:397015000",
          "UMLS:C1301365"
        ],
        "synonyms": [
          "SM-AHN",
          "SM-AHNMD",
          "SMAHN",
          "systemic mastocytosis with an associated haematological neoplasm",
          "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)",
          "systemic mastocytosis with an associated hematological neoplasm",
          "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)",
          "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease",
          "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease",
          "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease",
          "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)",
          "systemic mastocytosis with associated hematologic neoplasm"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020332"
    },
    {
      "id": 19802,
      "label": "aggressive systemic mastocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4798",
          "GARD:0019597",
          "ICD10CM:C96.21",
          "ICDO:9741/3",
          "MEDGEN:206813",
          "MedDRA:10056453",
          "NCIT:C9285",
          "ONCOTREE:ASM",
          "Orphanet:98850",
          "SCTID:716655008",
          "UMLS:C1112486",
          "icd11.foundation:870477963"
        ],
        "synonyms": [
          "ASM",
          "aggressive systemic mastocytosis (morphologic abnormality)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues."
      },
      "child_count": 1,
      "reference_id": "MONDO:0020333"
    },
    {
      "id": 19803,
      "label": "mast cell leukemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6789,
        17076
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9254",
          "EFO:0007359",
          "GARD:0019598",
          "ICDO:9742/3",
          "MEDGEN:44123",
          "MESH:D007946",
          "MedDRA:10056450",
          "NCIT:C3169",
          "ONCOTREE:SMMCL",
          "Orphanet:158799",
          "Orphanet:98851",
          "SCTID:110002002",
          "UMLS:C0023461",
          "icd11.foundation:1359806843"
        ],
        "synonyms": [
          "Mast cell leukaemia",
          "Mast cell leukemia",
          "aleukemic mast cell leukaemia",
          "aleukemic mast cell leukemia",
          "mast-cell leukaemia",
          "mast-cell leukemia",
          "SMMCL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020334"
    }
  ],
  "roots": [
    {
      "id": 9280,
      "label": "mastocytosis"
    }
  ]
}