{
  "id": 10569,
  "label": "Hennekam lymphangiectasia-lymphedema syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009337",
  "properties": {
    "xrefs": [
      "GARD:0015181",
      "MEDGEN:860487",
      "OMIM:235510",
      "UMLS:C4012050"
    ],
    "synonyms": [
      "CCBE1 Hennekam syndrome",
      "Hennekam lymphangiectasia-lymphedema syndrome 1",
      "Hennekam lymphangiectasia-lymphedema syndrome type 1",
      "Hennekam syndrome caused by mutation in CCBE1",
      "HKLLS1",
      "Hennekam lymphangiectasia-lymphedema syndrome",
      "lymphatic dysplasia, generalised",
      "lymphatic dysplasia, generalized"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16822,
      "label": "Hennekam syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16087,
        19154
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060366",
          "GARD:0003318",
          "ICD9:457.1",
          "MEDGEN:137946",
          "OMIMPS:235510",
          "Orphanet:2136",
          "SCTID:234146006",
          "UMLS:C0340834",
          "icd11.foundation:162216708"
        ],
        "synonyms": [
          "Hennekam lymphangiectasia lymphedema syndrome",
          "Hennekam lymphangiectasia-lymphedema syndrome",
          "lymphedema-lymphangiectasia-intellectual disability syndrome",
          "intestinal lymphagiectasia lymphedema intellectual deficit syndrome",
          "lymphangiectasies and lymphedema Hennekam type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016256"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16822,
      "label": "Hennekam syndrome"
    }
  ]
}