{
  "id": 16822,
  "label": "Hennekam syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016256",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7065,
        19049
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050580",
          "GARD:0013057",
          "ICD10CM:Q82.0",
          "ICD9:757.0",
          "MEDGEN:140763",
          "OMIMPS:153100",
          "SCTID:254199006",
          "UMLS:C0398368"
        ],
        "synonyms": [
          "hereditary lymphedema",
          "lymphedema, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation."
      },
      "child_count": 84,
      "reference_id": "MONDO:0019313"
    }
  ],
  "children": [
    {
      "id": 10569,
      "label": "Hennekam lymphangiectasia-lymphedema syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16822
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009337"
    },
    {
      "id": 15454,
      "label": "Hennekam lymphangiectasia-lymphedema syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016047",
          "MEDGEN:863376",
          "OMIM:616006",
          "UMLS:C4014939"
        ],
        "synonyms": [
          "FAT4 Hennekam syndrome",
          "Hennekam lymphangiectasia-lymphedema syndrome 2",
          "Hennekam lymphangiectasia-lymphedema syndrome type 2",
          "Hennekam syndrome caused by mutation in FAT4",
          "HKLLS2"
        ],
        "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 FAT4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014454"
    },
    {
      "id": 22255,
      "label": "hennekam lymphangiectasia-lymphedema syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16822
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016296",
          "MEDGEN:1648368",
          "OMIM:618154",
          "UMLS:C4748408"
        ],
        "synonyms": [
          "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3",
          "HKLLS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032564"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 19154,
      "label": "lymphatic malformation"
    }
  ]
}