{
  "id": 19027,
  "label": "cholesteryl ester storage disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019149",
  "properties": {
    "xrefs": [
      "DOID:14502",
      "GARD:0012099",
      "MEDGEN:40266",
      "NANDO:1200144",
      "NANDO:2201233",
      "NORD:929",
      "OMIM:278000",
      "Orphanet:75234",
      "SCTID:57218003",
      "UMLS:C0008384",
      "icd11.foundation:894336362"
    ],
    "synonyms": [
      "LAL deficiency, partial",
      "LIPA deficiency, partial",
      "cholesterol ester hydrolase deficiency, partial",
      "cholesterol ester storage disease",
      "lysosomal acid lipase deficiency, partial",
      "CESD",
      "lysosomal and lipase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia."
  },
  "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"
    }
  ]
}