{
  "id": 17947,
  "label": "combined pancreatic lipase-colipase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017712",
  "properties": {
    "xrefs": [
      "GARD:0017403",
      "MEDGEN:1631148",
      "Orphanet:309111",
      "UMLS:C4706317"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14722,
      "label": "pancreatic triacylglycerol lipase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4455,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017401",
          "ICD9:277.89",
          "MEDGEN:482157",
          "NANDO:2200912",
          "NCIT:C129030",
          "OMIM:614338",
          "Orphanet:309031",
          "SCTID:78960005",
          "UMLS:C3280527",
          "icd11.foundation:349070670"
        ],
        "synonyms": [
          "pancreatic triglyceride lipase deficiency",
          "PL deficiency",
          "PNLIPD",
          "colipase, congenital absence of pancreatic",
          "lipase and colipase, congenital absence of pancreatic",
          "lipase and colipase, deficiency of",
          "lipase, congenital absence of pancreatic",
          "pancreatic colipase deficiency",
          "pancreatic lipase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase."
      },
      "child_count": 4,
      "reference_id": "MONDO:0013700"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14722,
      "label": "pancreatic triacylglycerol lipase deficiency"
    }
  ]
}