{
  "id": 10751,
  "label": "lipase deficiency, combined",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009527",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18634,
      "label": "familial chylomicronemia syndrome"
    }
  ]
}