has material basis in germline mutation in PNLIP pancreas disorder inherited lipid metabolism disorder pancreatic triacylglycerol lipase deficiency https://github.com/monarch-initiative/mondo/issues/6651 https://github.com/monarch-initiative/mondo/issues/6743 https://github.com/monarch-initiative/mondo/issues/6757 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/pancreatic_lipase_deficiency https://www.malacards.org/card/pancreatic_triacylglycerol_lipase_deficiency MEDGEN:482157 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. This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005073) ontology branch (https://orcid.org/0000-0002-1780-5237), and the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) PNLIPD OMIM:614338 ICD9:277.89 NANDO:2200912 UMLS:C3280527 pancreatic triglyceride lipase deficiency pancreatic lipase deficiency GARD:0017401 MONDO:0013700 SCTID:78960005 NCIT:C129030 Orphanet:309031 icd11.foundation:349070670