{
  "id": 19289,
  "label": "heavy chain disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019464",
  "properties": {
    "xrefs": [
      "DOID:0060125",
      "EFO:1001341",
      "GARD:0019074",
      "ICD10CM:C88.2",
      "ICD10CM:C88.3",
      "ICD9:273.2",
      "ICDO:9762/3",
      "MEDGEN:5469",
      "MESH:D006362",
      "MedDRA:10019350",
      "NCIT:C3082",
      "Orphanet:86864",
      "SCTID:68979007",
      "UMLS:C0018852"
    ],
    "synonyms": [
      "HCD",
      "heavy chain disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 6702,
      "label": "plasma cell neoplasm",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6694
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6536",
          "EFO:0000200",
          "GARD:0019440",
          "ICD9:238.6",
          "MEDGEN:368758",
          "MESH:D054219",
          "NCIT:C4665",
          "Orphanet:98282",
          "SCTID:415111003",
          "UMLS:C1959632"
        ],
        "synonyms": [
          "plasma cell dyscrasia",
          "plasma cell neoplasm",
          "plasma cell tumor",
          "plasma cell tumor, malignant",
          "plasmacytic neoplasm",
          "plasmacytic tumor",
          "plasmacytic tumour",
          "plasma cell disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance."
      },
      "child_count": 7,
      "reference_id": "MONDO:0004959"
    }
  ],
  "children": [
    {
      "id": 3055,
      "label": "delta-heavy chain disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060129",
          "GARD:0022815",
          "ICD9:203.80",
          "MEDGEN:543921",
          "SCTID:20224008",
          "UMLS:C0272253"
        ],
        "synonyms": [
          "IgD heavy chain disease",
          "delta heavy chain disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A heavy chain disease that results from an overproduction of delta antibody (IgD)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0000659"
    },
    {
      "id": 16020,
      "label": "mu-heavy chain disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060128",
          "GARD:0019741",
          "ICD9:273.2",
          "MEDGEN:66875",
          "NCIT:C3892",
          "Orphanet:100024",
          "SCTID:61493004",
          "UMLS:C0242310",
          "icd11.foundation:963887455"
        ],
        "synonyms": [
          "mu chain disease",
          "mu heavy chain disease",
          "mu-HCD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015044"
    },
    {
      "id": 16021,
      "label": "alpha-heavy chain disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060126",
          "GARD:0019742",
          "ICDO:9760/3",
          "ICDO:9764/3",
          "MEDGEN:7039",
          "MESH:D007161",
          "NCIT:C3132",
          "Orphanet:100025",
          "UMLS:C0021071",
          "icd11.foundation:680227490"
        ],
        "synonyms": [
          "Alpha heavy chain disease",
          "Alpha-HCD",
          "IPSID",
          "Immunoproliferative small intestinal disease",
          "Mediterranean abdominal lymphoma",
          "Mediterranean lymphoma",
          "Mediterraneanl lymphoma",
          "alpha chain disease",
          "Seligmann's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015045"
    },
    {
      "id": 16022,
      "label": "gamma-heavy chain disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060127",
          "GARD:0010346",
          "ICD9:273.2",
          "MEDGEN:42374",
          "NCIT:C3083",
          "Orphanet:100026",
          "SCTID:109984001",
          "UMLS:C0018854",
          "icd11.foundation:705015637"
        ],
        "synonyms": [
          "Franklin disease",
          "Franklin's disease",
          "gamma heavy chain disease",
          "gamma-HCD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015046"
    },
    {
      "id": 21321,
      "label": "epsilon-heavy chain disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025383",
          "ICD9:273.2",
          "MEDGEN:543922",
          "SCTID:60620005",
          "UMLS:C0272254"
        ],
        "synonyms": [
          "IgE heavy chain disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024285"
    }
  ],
  "roots": [
    {
      "id": 6702,
      "label": "plasma cell neoplasm"
    }
  ]
}