{
  "id": 22855,
  "label": "GJC2-related late-onset primary lymphedema",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0035472",
  "properties": {
    "xrefs": [
      "GARD:0022299",
      "MEDGEN:1809328",
      "Orphanet:568051",
      "UMLS:C5681305"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19049,
      "label": "primary lymphedema",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19145
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018932",
          "MEDGEN:1804666",
          "NANDO:2201031",
          "NCIT:C48829",
          "Orphanet:77240",
          "UMLS:C5576443",
          "icd11.foundation:794588197"
        ],
        "synonyms": [
          "Troncular lymphatic malformation",
          "primary lymphedema"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection."
      },
      "child_count": 13,
      "reference_id": "MONDO:0019175"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19049,
      "label": "primary lymphedema"
    }
  ]
}