{
  "id": 25037,
  "label": "lysosomal acid lipase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800449",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 19108,
      "label": "lysosomal lipid storage disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        4625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9455",
          "GARD:0012511",
          "ICD9:272.7",
          "ICD9:272.8",
          "MEDGEN:9780",
          "MESH:D008064",
          "Orphanet:79204",
          "SCTID:10741005",
          "UMLS:C0023794"
        ],
        "synonyms": [
          "inborn error of lipid storage",
          "lipid storage disease",
          "lipoid storage disease",
          "lipoid storage disorder",
          "rare inborn error of lipid storage",
          "lipidoses",
          "lipidosis",
          "lipoidoses",
          "lipoidosis"
        ],
        "definition": "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes."
      },
      "child_count": 14,
      "reference_id": "MONDO:0019245"
    }
  ],
  "children": [
    {
      "id": 19026,
      "label": "Wolman disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25037
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019148"
    },
    {
      "id": 19027,
      "label": "cholesteryl ester storage disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25037
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019149"
    }
  ],
  "roots": [
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 19108,
      "label": "lysosomal lipid storage disorder"
    }
  ]
}