{
  "id": 19026,
  "label": "Wolman disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019148",
  "properties": {
    "xrefs": [
      "DOID:14497",
      "GARD:0007899",
      "MEDGEN:53088",
      "MESH:C564736",
      "MESH:D015223",
      "MedDRA:10053687",
      "NANDO:1200142",
      "NANDO:1200143",
      "NANDO:2200570",
      "NANDO:2201232",
      "NCIT:C61271",
      "NORD:1862",
      "OMIM:620151",
      "Orphanet:75233",
      "SCTID:238074007",
      "SCTID:82500001",
      "UMLS:C0043208",
      "icd11.foundation:520367511"
    ],
    "synonyms": [
      "lysosomal acid lipase deficiency",
      "Wolman disease with hypolipoproteinemia and acanthocytosis",
      "Wolman's disease",
      "deficiency of cholesterol esterase and triacylglycerol lipase",
      "familial visceral xanthomatosis",
      "familial xanthomatosis",
      "liposomal acid lipase deficiency, Wolman type",
      "primary familial xanthomatosis",
      "primary familial xanthomatosis with adrenal calcification"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 25037,
      "label": "lysosomal acid lipase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16607,
        19108
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080217",
          "GARD:0012097",
          "MEDGEN:1807768",
          "MESH:C531854",
          "OMIMPS:278000",
          "Orphanet:275761",
          "SCTID:715923003",
          "UMLS:C5574740",
          "icd11.foundation:381622932"
        ],
        "synonyms": [
          "LAL deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0800449"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 25037,
      "label": "lysosomal acid lipase deficiency"
    }
  ]
}