{
  "id": 10619,
  "label": "familial lipoprotein lipase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009387",
  "properties": {
    "xrefs": [
      "DOID:14118",
      "GARD:0012241",
      "ICD9:272.3",
      "MEDGEN:7352",
      "MESH:D008072",
      "NCIT:C84771",
      "NORD:1129",
      "OMIM:238600",
      "Orphanet:309015",
      "SCTID:275598004",
      "UMLS:C0023817",
      "icd11.foundation:1829539217"
    ],
    "synonyms": [
      "familial chylomicronemia syndrome",
      "hyperlipoproteinemia type I",
      "hyperlipoproteinemia, type 1",
      "hyperlipoproteinemia, type I",
      "type I hyperlipoproteinemia",
      "LPL deficiency",
      "familial lipoprotein lipase deficiency (disorder) [ambiguous]",
      "familial lipoprotein lipase deficiency with type I phenotype",
      "high density lipoprotein cholesterol level QTL 11",
      "hyperchylomicronemia",
      "Burger-Grutz syndrome",
      "chylomicronemia, familial",
      "endogenous hypertriglyceridaemia",
      "familial fat-induced hypertriglyceridemia",
      "familial hyperchylomicronemia",
      "hyperchylomicronemia, familial",
      "hyperlipemia, essential familial",
      "hyperlipemia, idiopathic, Burger-Grutz type",
      "hyperlipoproteinemia, type 1A",
      "lipase D deficiency",
      "lipd deficiency",
      "lipoprotein lipase deficiency",
      "lipoprotein lipase deficiency, familial"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3564,
      "label": "familial hyperlipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        20414
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1168",
          "GARD:0022924",
          "MEDGEN:675194",
          "NANDO:2200603",
          "UMLS:C0700623"
        ],
        "synonyms": [
          "hyperlipemia",
          "hyperlipidaemia",
          "hereditary hyperlipidemia (disease)",
          "familial hyperlipemia",
          "familial hyperlipoproteinemia"
        ],
        "definition": "An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 20,
      "reference_id": "MONDO:0001336"
    },
    {
      "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": 18634,
      "label": "familial chylomicronemia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111417",
          "GARD:0006414",
          "MEDGEN:1778100",
          "Orphanet:444490",
          "UMLS:C5442313"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function."
      },
      "child_count": 5,
      "reference_id": "MONDO:0018637"
    },
    {
      "id": 22978,
      "label": "hyperlipoproteinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0010980",
          "MEDGEN:9363",
          "MESH:D006951",
          "NCIT:C34709",
          "UMLS:C0020476"
        ],
        "synonyms": [
          "hyperlipoproteinemia"
        ],
        "definition": "An elevated concentration of lipoproteins."
      },
      "child_count": 4,
      "reference_id": "MONDO:0037748"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3564,
      "label": "familial hyperlipidemia"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 18634,
      "label": "familial chylomicronemia syndrome"
    },
    {
      "id": 22978,
      "label": "hyperlipoproteinemia"
    }
  ]
}