{
  "id": 14722,
  "label": "pancreatic triacylglycerol lipase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013700",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4455,
      "label": "pancreas disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:26",
          "EFO:0009605",
          "ICD10CM:K86.9",
          "ICD9:577.8",
          "ICD9:577.9",
          "MEDGEN:14583",
          "MESH:D010182",
          "NCIT:C26842",
          "SCTID:3855007",
          "UMLS:C0030286",
          "icd11.foundation:1726554290"
        ],
        "synonyms": [
          "disease of pancreas",
          "disease or disorder of pancreas",
          "disorder of pancreas",
          "pancreas disease",
          "pancreas disease or disorder",
          "pancreatic disorder",
          "disease, pancreatic",
          "diseases, pancreatic",
          "pancreatic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms."
      },
      "child_count": 28,
      "reference_id": "MONDO:0002356"
    },
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3146",
          "GARD:0021314",
          "ICD9:272.8",
          "ICD9:272.9",
          "MEDGEN:57587",
          "MedDRA:10061227",
          "NCIT:C97092",
          "Orphanet:309005",
          "SCTID:267431006",
          "SCTID:402788005",
          "UMLS:C0154251"
        ],
        "synonyms": [
          "disorder of lipid metabolism",
          "dyslipidaemia",
          "dyslipidemia",
          "lipid metabolism disorder",
          "fatty acid metabolism disorder"
        ],
        "definition": "An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production."
      },
      "child_count": 29,
      "reference_id": "MONDO:0002525"
    }
  ],
  "children": [
    {
      "id": 17946,
      "label": "pancreatic colipase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14722
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017711"
    },
    {
      "id": 17947,
      "label": "combined pancreatic lipase-colipase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        14722
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017712"
    }
  ],
  "roots": [
    {
      "id": 4455,
      "label": "pancreas disorder"
    },
    {
      "id": 4594,
      "label": "inherited lipid metabolism disorder"
    }
  ]
}