{
  "id": 18705,
  "label": "multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018735",
  "properties": {
    "xrefs": [
      "GARD:0010467",
      "MEDGEN:1804470",
      "NCIT:C60672",
      "Orphanet:464321",
      "UMLS:C5575322"
    ],
    "synonyms": [
      "DKFZp434L132",
      "MALT1 wt allele",
      "MLT",
      "MLT1",
      "cutaneovisceral angiomatosis-thrombocytopenia syndrome",
      "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele",
      "multifocal lymphangioendotheliomatosis with thrombocytopenia"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4167,
      "label": "lymphangioma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3034,
        22949
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1475",
          "ICD9:228.1",
          "ICDO:9170/0",
          "MEDGEN:6153",
          "MESH:D008202",
          "NANDO:2201032",
          "NCIT:C8965",
          "Orphanet:2415",
          "SCTID:254836000",
          "SCTID:400178008",
          "UMLS:C0024221"
        ],
        "synonyms": [
          "benign lymphangioma (morphologic abnormality)",
          "lymphangioma",
          "lymphangioma, benign",
          "congenital lymphangioma",
          "LM"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation."
      },
      "child_count": 24,
      "reference_id": "MONDO:0002013"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4167,
      "label": "lymphangioma"
    }
  ]
}