Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of pancreas physiology (HP:0012091)help
Parent Node:
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Abnormality of the endocrine system (HP:0000818)help
..Starting node
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Abnormality of endocrine pancreas physiology (HP:0012093)help
Term ID: 12093
Name: Abnormality of endocrine pancreas physiology
Synonym:
Definition: A function abnormality of the endocrine pancreas.
Comments:
Reference: HP:0012093
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the pancreatic islet cells (HP:0006476) help
................... HP:0004510 Pancreatic islet-cell hyperplasia
................... HP:0006274 Reduced pancreatic beta cells
................... HP:0006279 Beta-cell dysfunction
................... HP:0008261 Pancreatic islet cell adenoma

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of renin-angiotensin system (HP:0000847) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the pineal gland (HP:0012680) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the thyroid gland (HP:0000820) help
..expandDiabetes insipidus (HP:0000873) help
..expandDiabetes mellitus (HP:0000819) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:0008261Pancreatic islet cell adenoma2HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0006274Reduced pancreatic beta cells2HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0006279Beta-cell dysfunction2HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0006279Beta-cell dysfunction2HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0006274Reduced pancreatic beta cells2HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0008261Pancreatic islet cell adenoma2HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0008261Pancreatic islet cell adenoma2HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0006274Reduced pancreatic beta cells2HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0006279Beta-cell dysfunction2HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0008261Pancreatic islet cell adenoma2HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:0006279Beta-cell dysfunction2HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:0006274Reduced pancreatic beta cells2HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:4000061Pancreatic alpha-cell hyperplasia3HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0008194Multiple pancreatic beta-cell adenomas3HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0031223Focal pancreatic islet hyperplasia3HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0012197Insulinoma3HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0031224Diffuse pancreatic islet hyperplasia3HAMP CL E G H5781779230ORPHA06715598606464
HP:0012093HP:0008194Multiple pancreatic beta-cell adenomas3HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:4000061Pancreatic alpha-cell hyperplasia3HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0012197Insulinoma3HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0031223Focal pancreatic islet hyperplasia3HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0031224Diffuse pancreatic islet hyperplasia3HJV CL E G H14873879230ORPHA04704887608374
HP:0012093HP:0031224Diffuse pancreatic islet hyperplasia3HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0008194Multiple pancreatic beta-cell adenomas3HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:4000061Pancreatic alpha-cell hyperplasia3HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0012197Insulinoma3HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0031223Focal pancreatic islet hyperplasia3HNF1B CL E G H692893111ORPHA069711630189907
HP:0012093HP:0012197Insulinoma3HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:0031223Focal pancreatic islet hyperplasia3HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:0031224Diffuse pancreatic islet hyperplasia3HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:0008194Multiple pancreatic beta-cell adenomas3HNF4A CL E G H317293111ORPHA05095024600281
HP:0012093HP:4000061Pancreatic alpha-cell hyperplasia3HNF4A CL E G H317293111ORPHA05095024600281


Genes (29) :ABCC8 CDKN1A CDKN1B CDKN2B CDKN2C DIS3L2 EIF2AK3 FAH GCK GPC3 GPC4 HAMP HJV HNF1A HNF1B HNF4A HYMAI INS INSR KCNJ11 LBR MAFA MEN1 PDX1 PLAGL1 SLC16A1 STAT3 UCP2 ZFP57

Diseases (26) :79230 93111 99886 97279 276575 99885 606176 256450 267000 1667 226980 276700 373 312870 324575 263455 246200 276580 601820 215140 131100 610021 276556 652 276152 147630
 

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