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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1245
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitus245
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitus237
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0HAMP CL E G H5781715598ORPHA:79230Hemochromatosis type 2HP:0040283 - Occasional15
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0HJV CL E G H1487384887ORPHA:79230Hemochromatosis type 2HP:0040283 - Occasional
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040283 - Occasional90
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitus62
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2127
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitus127
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0PAX4 CL E G H50788618OMIM:612227Diabetes mellitus, ketosis-prone55
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitus30
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitus110
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0012093HP:0012093Abnormality of endocrine pancreas physiology0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1245
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitus245
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitus237
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitus62
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2127
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitus127
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1PAX4 CL E G H50788618OMIM:612227Diabetes mellitus, ketosis-prone55
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitus30
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitus110
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0012093HP:0006476Abnormality of the pancreatic islet cells1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040281 - Very frequent7
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1.245
HP:0012093HP:0006274Reduced pancreatic beta cells2ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent245
HP:0012093HP:0008261Pancreatic islet cell adenoma2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0012093HP:0008261Pancreatic islet cell adenoma2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0012093HP:0008261Pancreatic islet cell adenoma2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0012093HP:0008261Pancreatic islet cell adenoma2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0012093HP:0008261Pancreatic islet cell adenoma2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0012093HP:0008261Pancreatic islet cell adenoma2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0012093HP:0006274Reduced pancreatic beta cells2EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0012093HP:0006274Reduced pancreatic beta cells2GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent237
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0012093HP:0006274Reduced pancreatic beta cells2INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent62
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0008261Pancreatic islet cell adenoma2KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2.127
HP:0012093HP:0006274Reduced pancreatic beta cells2KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent127
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0012093HP:0008261Pancreatic islet cell adenoma2MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0012093HP:0008261Pancreatic islet cell adenoma2MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0012093HP:0008261Pancreatic islet cell adenoma2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0012093HP:0006279Beta-cell dysfunction2PAX4 CL E G H50788618OMIM:612227Diabetes mellitus, ketosis-prone.55
HP:0012093HP:0006274Reduced pancreatic beta cells2PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent30
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0012093HP:0006274Reduced pancreatic beta cells2STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent110
HP:0012093HP:0004510Pancreatic islet-cell hyperplasia2UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0012093HP:0008261Pancreatic islet cell adenoma2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0012093HP:0031224Diffuse pancreatic islet hyperplasia3ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040282 - Frequent245
HP:0012093HP:0031223Focal pancreatic islet hyperplasia3ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040282 - Frequent245
HP:0012093HP:0012197Insulinoma3CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0012093HP:0012197Insulinoma3CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0012093HP:0012197Insulinoma3CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0012093HP:0012197Insulinoma3CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0012093HP:0012197Insulinoma3CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0012093HP:4000061Pancreatic alpha-cell hyperplasia3GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0012093HP:0031224Diffuse pancreatic islet hyperplasia3KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040282 - Frequent127
HP:0012093HP:0031223Focal pancreatic islet hyperplasia3KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0008194Multiple pancreatic beta-cell adenomas3KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0031224Diffuse pancreatic islet hyperplasia3KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0012093HP:0012197Insulinoma3MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0012093HP:0008194Multiple pancreatic beta-cell adenomas3MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus.
HP:0012093HP:0012197Insulinoma3MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0012093HP:0012197Insulinoma3MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0012093HP:0031224Diffuse pancreatic islet hyperplasia3UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040283 - Occasional15


Genes (30) :ABCC8 CCND1 CDKN1A CDKN1B CDKN2B CDKN2C DIS3L2 EIF2AK3 FAH GCGR GCK GPC3 GPC4 HAMP HJV HNF1B HNF4A INS INSR KCNJ11 LBR MAFA MEN1 PAX4 PDX1 SLC16A1 STAT3 UCP2 VHL YY1

Diseases (26) :ORPHA:276575 OMIM:256450 ORPHA:99885 ORPHA:892 ORPHA:652 ORPHA:276152 OMIM:267000 OMIM:226980 OMIM:276700 OMIM:619290 ORPHA:373 OMIM:312870 ORPHA:79230 ORPHA:93111 ORPHA:263455 OMIM:246200 ORPHA:276580 ORPHA:79644 OMIM:601820 OMIM:215140 OMIM:147630 ORPHA:97279 OMIM:131100 OMIM:612227 OMIM:610021 ORPHA:276556
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.