{
  "id": 22759,
  "label": "monoclonal mast cell activation syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033954",
  "properties": {
    "xrefs": [
      "GARD:0012980",
      "ICD10CM:D89.41",
      "MEDGEN:1672509",
      "NCIT:C181652",
      "Orphanet:529468",
      "UMLS:C4267893"
    ],
    "synonyms": [
      "primary MCAS",
      "primary mast cell activation syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 23764,
      "label": "mast cell activation syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6569
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012981",
          "MEDGEN:1698540",
          "MESH:D000090267",
          "UMLS:C5200989"
        ],
        "synonyms": [
          "MACS",
          "disorder of mast cell activation",
          "mast cell activation disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS)."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100004"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 23764,
      "label": "mast cell activation syndrome"
    }
  ]
}