Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the pancreas (HP:0001732)help
Parent Node:
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Abnormality of pancreas physiology (HP:0012091)help
..Starting node
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Abnormality of exocrine pancreas physiology (HP:0012092)help
Term ID: 12092
Name: Abnormality of exocrine pancreas physiology
Synonym: Abnormal exocrine pancreatic function
Definition: A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.
Comments:
Reference: HP:0012092
Genes and Diseases:
 
       Child Nodes:
........expandExocrine pancreatic insufficiency (HP:0001738) help

 Sister Nodes: 
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandPancreatitis (HP:0001733) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012092HP:0012092Abnormality of exocrine pancreas physiology0CEL CL E G H1056609812Maturity-onset diabetes of the young, type 8609812C1853297OMIM12461848114840
HP:0012092HP:0001738Exocrine pancreatic insufficiency1CEL CL E G H1056609812Maturity-onset diabetes of the young, type 8609812C1853297OMIM12461848114840
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012092HP:0012092Abnormality of exocrine pancreas physiology0HNF1B CL E G H692893111ORPHA069711630189907
HP:0012092HP:0012092Abnormality of exocrine pancreas physiology0HNF4A CL E G H317293111ORPHA05095024600281
HP:0012092HP:0001738Exocrine pancreatic insufficiency1HNF1B CL E G H692893111ORPHA069711630189907
HP:0012092HP:0001738Exocrine pancreatic insufficiency1HNF4A CL E G H317293111ORPHA05095024600281


Genes (33) :ARX BRCA1 BRCA2 CDKN2A CEL CFTR CLCA4 COX4I2 CTNS DCTN4 DNAJC21 EFL1 EIF2AK3 GATA6 HFE HNF1B HNF4A JAG1 KRAS OFD1 PALB2 PALLD PDX1 PRSS1 PUF60 SBDS SMAD4 SPINK1 SRP54 STX1A TGFB1 TP53 UBR1

Diseases (23) :609812 93111 452 1333 586 219700 612714 219800 811 617052 260400 617941 1667 2255 465508 137920 118450 2750 260370 167800 508488 2315 243800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.