{
  "id": 16021,
  "label": "alpha-heavy chain disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015045",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19289,
      "label": "heavy chain disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6702
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 5,
      "reference_id": "MONDO:0019464"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19289,
      "label": "heavy chain disease"
    }
  ]
}