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Ontology Browser
Term:
pancreatic triacylglycerol lipase deficiency (EFO:MONDO:0013700)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 
accessory pancreas 
annular pancreas 
biliary dyskinesia 
cortisone reductase deficiency 
developmental and epileptic encephalopathy, 55 
disorder of phospholipids, sphingolipids and fatty acids biosynthesis +  
disorder of plasmalogens biosynthesis +  
endocrine pancreas disorder +   
exocrine pancreatic insufficiency +  
familial hyperlipidemia +   
Genetic pancreatic disease +  
glucocorticoid resistance 
glycosylphosphatidylinositol biosynthesis defect 15 
glycosylphosphatidylinositol biosynthesis defect 16 
glycosylphosphatidylinositol biosynthesis defect 17 
glycosylphosphatidylinositol biosynthesis defect 18 
hypolipoproteinemia +  
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +  
inborn disorder of ketolysis +  
inherited fatty acid metabolism disorder +  
lipoid proteinosis 
lysosomal lipid storage disorder +   
mitochondrial trifunctional protein deficiency +  
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 
pancreatic neoplasm +   
pancreatic triacylglycerol lipase deficiency +  
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.
pancreatitis +   
steroid inherited metabolic disorder +  
sterol metabolism disorder +  
syndromic dyslipidemia +  

Synonyms
Exact Synonyms: pancreatic triglyceride lipase deficiency
Related Synonyms: 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
Alternate IDs: MONDO:0013700
Xrefs: GARD:17401 ;   ICD10CM:K90.3 ;   ICD9:277.89 ;   MEDGEN:482157 ;   MIM:614338 ;   NANDO:2200912 ;   NCI:C129030 ;   ORDO:309031 ;   SCTID:78960005 ;   UMLS:C3280527
Definition Sources: NCIT:C129030

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