Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614338
http://purl.bioontology.org/ontology/OMIM/614338
Preferred Name

PANCREATIC LIPASE DEFICIENCY
Synonyms
LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC
COLIPASE, CONGENITAL ABSENCE OF PANCREATIC
LIPASE, CONGENITAL ABSENCE OF PANCREATIC
PNLIPD
PL DEFICIENCY
PANCREATIC COLIPASE DEFICIENCY
LIPASE AND COLIPASE, DEFICIENCY OF
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC
COLIPASE, CONGENITAL ABSENCE OF PANCREATIC
LIPASE, CONGENITAL ABSENCE OF PANCREATIC
PNLIPD
PL DEFICIENCY
PANCREATIC COLIPASE DEFICIENCY
LIPASE AND COLIPASE, DEFICIENCY OF
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prefLabel
PANCREATIC LIPASE DEFICIENCY
Gene Symbol
PNLIP
PNLIPD
Scope Statement
Caused by mutation in the pancreatic lipase gene (PNLIP, 246600.0001) [MOLECULAR BASIS]
Despite voluminous steatorrhea, patients' growth and overall state of health is good [MISCELLANEOUS]
type
Has manifestation
tui
T047
Gene Locus
10q26.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614338
Semantic type UMLS property
Has inheritance type
cui
C3280530
C3280527
C3280528
C3280529
C0268241
OMIM Entry Type
3
OMIM MimType Value
pound
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