{
  "id": 18634,
  "label": "familial chylomicronemia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018637",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 8723,
      "label": "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111419",
          "GARD:0024550",
          "MEDGEN:348391",
          "MESH:C566126",
          "OMIM:118830",
          "UMLS:C1861560"
        ],
        "synonyms": [
          "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase",
          "hyperlipoproteinemia, type 1C"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007327"
    },
    {
      "id": 10078,
      "label": "familial apolipoprotein C-II deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3564,
        16607,
        18634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111418",
          "GARD:0000759",
          "MEDGEN:328375",
          "OMIM:207750",
          "Orphanet:309020",
          "SCTID:33513003",
          "UMLS:C1720779",
          "icd11.foundation:877401371"
        ],
        "synonyms": [
          "familial apoC-II deficiency",
          "familial apolipoprotein C-II deficiency",
          "hyperlipoproteinemia, type IB",
          "Apoc2 deficiency",
          "C-II Anapolipoproteinemia",
          "apolipoprotein C-II deficiency",
          "hyperlipoproteinemia, type 1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008810"
    },
    {
      "id": 10619,
      "label": "familial lipoprotein lipase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3564,
        16607,
        18634,
        22978
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009387"
    },
    {
      "id": 10751,
      "label": "lipase deficiency, combined",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        18634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111422",
          "GARD:0010244",
          "MEDGEN:340886",
          "MESH:C535904",
          "NCIT:C126558",
          "OMIM:246650",
          "Orphanet:535453",
          "UMLS:C1855498"
        ],
        "synonyms": [
          "combined lipase deficiency",
          "familial lipase maturation factor 1 deficiency",
          "lipase deficiency, combined",
          "LPL and HL deficiency",
          "LPL and HTGL deficiency",
          "lipase deficiency combined",
          "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009527"
    },
    {
      "id": 15414,
      "label": "hyperlipoproteinemia, type 1D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3564,
        7611,
        16607,
        18634
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111420",
          "GARD:0017973",
          "MEDGEN:863204",
          "OMIM:615947",
          "Orphanet:535458",
          "UMLS:C4014767"
        ],
        "synonyms": [
          "GPIHBP1 familial hyperlipidemia",
          "familial hyperlipidemia caused by mutation in GPIHBP1",
          "hyperlipoproteinemia, type 1D",
          "hyperlipoproteinemia, type ID"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014412"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}