{
  "id": 17946,
  "label": "pancreatic colipase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017711",
  "properties": {
    "xrefs": [
      "GARD:0017402",
      "ICD9:277.89",
      "MEDGEN:452357",
      "Orphanet:309108",
      "SCTID:69478001",
      "UMLS:C0268241",
      "icd11.foundation:11281354"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "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"
    }
  ]
}