Pancreatic Lipase Deficiency

Preferred Label : Pancreatic Lipase Deficiency;

NCIt synonyms : PNLIPD;

NCIt 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.;

Details

Origin ID

C129030;

UMLS CUI

C3280527;

Currated CISMeF NLP mapping
- Pancreatic lipase deficiency [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pancreatic lipase deficiency [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PNLIP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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