Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
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Abnormality of pancreas physiology (HP:0012091)help
Parent Node:
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Increased inflammatory response (HP:0012649)help
..Starting node
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Pancreatitis (HP:0001733)help
Term ID: 1733
Name: Pancreatitis
Synonym: Pancreatic inflammation
Definition: The presence of inflammation in the pancreas.
Comments:
Reference: HP:0001733
Genes and Diseases:
 
       Child Nodes:
........expandAcute pancreatitis (HP:0001735) help
........expandChronic calcifying pancreatitis (HP:0005236) help
........expandChronic pancreatitis (HP:0006280) help
........expandRecurrent pancreatitis (HP:0100027) help

 Sister Nodes: 
..expandCholangitis (HP:0030151) help
..expandChondritis (HP:0100662) help
..expandEndocarditis (HP:0100584) help
..expandEpididymitis (HP:0000031) help
..expandFasciitis (HP:0100537) help
..expandGastrointestinal inflammation (HP:0004386) help
..expandHepatitis (HP:0012115) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandInflammatory abnormality of the skin (HP:0011123) help
..expandLymphadenitis (HP:0002840) help
..expandMeningitis (HP:0001287) help
..expandMyelitis (HP:0012486) help
..expandMyositis (HP:0100614) help
..expandNephritis (HP:0000123) help
..expandOptic neuritis (HP:0100653) help
..expandOsteomyelitis (HP:0002754) help
..expandOtitis media (HP:0000388) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandSinusitis (HP:0000246) help
..expandStomatitis (HP:0010280) help
..expandThyroiditis (HP:0100646) help
..expandUrinary bladder inflammation (HP:0100577) help
..expandVaginitis (HP:0030683) 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:0001733HP:0001733Pancreatitis0ABCB4 CL E G H524445OMIM:600803Gallbladder disease 1.111
HP:0001733HP:0001733Pancreatitis0ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasisHP:0040283 - Occasional111
HP:0001733HP:0001733Pancreatitis0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 1HP:0040283 - Occasional23
HP:0001733HP:0001733Pancreatitis0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0001733HP:0001733Pancreatitis0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040284 - Very rare404
HP:0001733HP:0001733Pancreatitis0AP2S1 CL E G H1175565OMIM:600740Hypocalciuric hypercalcemia, familial, type III.6
HP:0001733HP:0001733Pancreatitis0APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0001733HP:0001733Pancreatitis0APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0001733HP:0001733Pancreatitis0ATP8B1 CL E G H52053706OMIM:243300Cholestasis, benign recurrent intrahepatic 1.144
HP:0001733HP:0001733Pancreatitis0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0001733HP:0001733Pancreatitis0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0001733HP:0001733Pancreatitis0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0001733HP:0001733Pancreatitis0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001733HP:0001733Pancreatitis0CASR CL E G H8461514ORPHA:676Hereditary chronic pancreatitis272
HP:0001733HP:0001733Pancreatitis0CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type I.272
HP:0001733HP:0001733Pancreatitis0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0001733HP:0001733Pancreatitis0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0001733HP:0001733Pancreatitis0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0001733HP:0001733Pancreatitis0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0001733HP:0001733Pancreatitis0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0001733HP:0001733Pancreatitis0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0001733HP:0001733Pancreatitis0CFTR CL E G H10801884ORPHA:676Hereditary chronic pancreatitis1371
HP:0001733HP:0001733Pancreatitis0CFTR CL E G H10801884OMIM:167800Pancreatitis, hereditary.1371
HP:0001733HP:0001733Pancreatitis0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0001733HP:0001733Pancreatitis0COX1 CL E G H45127419ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0COX2 CL E G H45137421ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0COX3 CL E G H45147422ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0CPA1 CL E G H13572296ORPHA:676Hereditary chronic pancreatitis5
HP:0001733HP:0001733Pancreatitis0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional10
HP:0001733HP:0001733Pancreatitis0CTRC CL E G H113302523ORPHA:676Hereditary chronic pancreatitis39
HP:0001733HP:0001733Pancreatitis0CTRC CL E G H113302523OMIM:167800Pancreatitis, hereditary.39
HP:0001733HP:0001733Pancreatitis0CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0001733HP:0001733Pancreatitis0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001733HP:0001733Pancreatitis0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0001733HP:0001733Pancreatitis0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001733HP:0001733Pancreatitis0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0001733HP:0001733Pancreatitis0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0001733HP:0001733Pancreatitis0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0001733HP:0001733Pancreatitis0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0001733HP:0001733Pancreatitis0GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0001733HP:0001733Pancreatitis0GNA11 CL E G H27674379OMIM:145981Hypocalciuric hypercalcemia, familial, type II.16
HP:0001733HP:0001733Pancreatitis0GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040283 - Occasional101
HP:0001733HP:0001733Pancreatitis0GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID12
HP:0001733HP:0001733Pancreatitis0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0001733HP:0001733Pancreatitis0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0001733HP:0001733Pancreatitis0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0001733HP:0001733Pancreatitis0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional1
HP:0001733HP:0001733Pancreatitis0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0001733HP:0001733Pancreatitis0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0001733HP:0001733Pancreatitis0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0001733HP:0001733Pancreatitis0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0001733HP:0001733Pancreatitis0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0001733HP:0001733Pancreatitis0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001733HP:0001733Pancreatitis0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0001733HP:0001733Pancreatitis0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040283 - Occasional645
HP:0001733HP:0001733Pancreatitis0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040283 - Occasional645
HP:0001733HP:0001733Pancreatitis0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040283 - Occasional645
HP:0001733HP:0001733Pancreatitis0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0001733HP:0001733Pancreatitis0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0001733HP:0001733Pancreatitis0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0001733HP:0001733Pancreatitis0MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040283 - Occasional281
HP:0001733HP:0001733Pancreatitis0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001733HP:0001733Pancreatitis0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0001733HP:0001733Pancreatitis0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0001733HP:0001733Pancreatitis0ND1 CL E G H45357455ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0ND4 CL E G H45387459ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0ND5 CL E G H45407461ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0ND6 CL E G H45417462ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 8.22
HP:0001733HP:0001733Pancreatitis0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0001733HP:0001733Pancreatitis0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0001733HP:0001733Pancreatitis0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0001733HP:0001733Pancreatitis0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0001733HP:0001733Pancreatitis0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0001733HP:0001733Pancreatitis0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0001733HP:0001733Pancreatitis0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040283 - Occasional65
HP:0001733HP:0001733Pancreatitis0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0001733HP:0001733Pancreatitis0PRSS1 CL E G H56449475ORPHA:676Hereditary chronic pancreatitis51
HP:0001733HP:0001733Pancreatitis0PRSS1 CL E G H56449475OMIM:167800Pancreatitis, hereditary.51
HP:0001733HP:0001733Pancreatitis0PRSS2 CL E G H56459483ORPHA:676Hereditary chronic pancreatitis1
HP:0001733HP:0001733Pancreatitis0PRSS2 CL E G H56459483OMIM:167800Pancreatitis, hereditary.1
HP:0001733HP:0001733Pancreatitis0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040283 - Occasional3
HP:0001733HP:0001733Pancreatitis0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001733HP:0001733Pancreatitis0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040283 - Occasional82
HP:0001733HP:0001733Pancreatitis0SLC25A13 CL E G H1016510983OMIM:603471Citrullinemia, type II, adult-onset.82
HP:0001733HP:0001733Pancreatitis0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040282 - Frequent110
HP:0001733HP:0001733Pancreatitis0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0001733HP:0001733Pancreatitis0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0001733HP:0001733Pancreatitis0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0001733HP:0001733Pancreatitis0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040283 - Occasional104
HP:0001733HP:0001733Pancreatitis0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040284 - Very rare74
HP:0001733HP:0001733Pancreatitis0SPINK1 CL E G H669011244ORPHA:676Hereditary chronic pancreatitis34
HP:0001733HP:0001733Pancreatitis0SPINK1 CL E G H669011244OMIM:167800Pancreatitis, hereditary.34
HP:0001733HP:0001733Pancreatitis0SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis34
HP:0001733HP:0001733Pancreatitis0SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0001733HP:0001733Pancreatitis0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0001733HP:0001733Pancreatitis0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0001733HP:0001733Pancreatitis0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0001733HP:0001733Pancreatitis0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0001733HP:0001733Pancreatitis0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001733HP:0001733Pancreatitis0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0001733HP:0001733Pancreatitis0TRNF CL E G H45587481ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0TRNH CL E G H45647487ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0TRNW CL E G H45787501ORPHA:550MELAS
HP:0001733HP:0001733Pancreatitis0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001733HP:0001733Pancreatitis0XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1109
HP:0001733HP:0001735Acute pancreatitis1AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0001733HP:0001735Acute pancreatitis1APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040283 - Occasional39
HP:0001733HP:0001735Acute pancreatitis1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0001733HP:0100027Recurrent pancreatitis1CASR CL E G H8461514ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent272
HP:0001733HP:0100027Recurrent pancreatitis1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0001733HP:0100027Recurrent pancreatitis1CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0001733HP:0100027Recurrent pancreatitis1CFTR CL E G H10801884ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent1371
HP:0001733HP:0100027Recurrent pancreatitis1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1CPA1 CL E G H13572296ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent5
HP:0001733HP:0100027Recurrent pancreatitis1CTRC CL E G H113302523ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent39
HP:0001733HP:0005236Chronic calcifying pancreatitis1CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0001733HP:0001735Acute pancreatitis1CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001733HP:0100027Recurrent pancreatitis1GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0001733HP:0100027Recurrent pancreatitis1GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID12
HP:0001733HP:0001735Acute pancreatitis1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040284 - Very rare35
HP:0001733HP:0001735Acute pancreatitis1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2HP:0040282 - Frequent645
HP:0001733HP:0100027Recurrent pancreatitis1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0001735Acute pancreatitis1NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 10.2
HP:0001733HP:0006280Chronic pancreatitis1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0001733HP:0100027Recurrent pancreatitis1PRSS1 CL E G H56449475ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent51
HP:0001733HP:0100027Recurrent pancreatitis1PRSS2 CL E G H56459483ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent1
HP:0001733HP:0001735Acute pancreatitis1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001733HP:0006280Chronic pancreatitis1SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0001733HP:0100027Recurrent pancreatitis1SPINK1 CL E G H669011244ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent34
HP:0001733HP:0006280Chronic pancreatitis1SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis.34
HP:0001733HP:0005236Chronic calcifying pancreatitis1SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0001733HP:0100027Recurrent pancreatitis1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0100027Recurrent pancreatitis1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0001733HP:0006280Chronic pancreatitis1XPNPEP3 CL E G H6392928052OMIM:613159Nephronophthisis-Like nephropathy 1HP:0040283 - Occasional109


Genes (94) :ABCB4 ACTG2 AGPAT2 ALMS1 AP2S1 APOC2 APOE ATP8B1 BCKDHA BCKDHB BSCL2 C4A CASR CAV1 CBS CCR1 CDC73 CFTR CIDEC COX1 COX2 COX3 CPA1 CTLA4 CTRC CYBC1 DBT ERAP1 FAS FCGR2A FLI1 G6PC1 GCGR GNA11 GNAS GPIHBP1 GPR35 HLA-B HLA-DPA1 HLA-DPB1 HMGCL IFNGR1 IFT172 IKZF1 IL10 IL12A IL12A-AS1 IL23R KLRC4 LMF1 LMNA LPL MEFV MMUT MST1 NADK2 ND1 ND4 ND5 ND6 NDUFS3 NFS1 NSMCE2 PCCA PCCB PDE11A PNPLA2 PPARG PRSS1 PRSS2 PRTN3 PTPN22 RNU7-1 SEMA4D SLC25A13 SLC37A4 SLC7A7 SMARCAL1 SPINK1 STAT4 STUB1 TCF4 TGFB1 TKFC TLR4 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW UBAC2 XPNPEP3

Diseases (68) :OMIM:600803 ORPHA:69663 OMIM:155310 OMIM:608594 ORPHA:64 OMIM:600740 OMIM:207750 ORPHA:412 OMIM:243300 OMIM:248600 OMIM:269700 ORPHA:117 ORPHA:676 OMIM:145980 OMIM:606721 OMIM:236200 OMIM:145001 ORPHA:99880 ORPHA:143 OMIM:219700 OMIM:167800 ORPHA:435651 ORPHA:550 ORPHA:900 ORPHA:103918 OMIM:618935 ORPHA:370348 OMIM:232200 OMIM:619290 OMIM:145981 ORPHA:562 OMIM:615947 ORPHA:171 ORPHA:36426 ORPHA:20 OMIM:619471 OMIM:246650 ORPHA:280365 ORPHA:2348 ORPHA:79084 OMIM:151660 OMIM:238600 ORPHA:342 OMIM:251000 ORPHA:79312 ORPHA:289916 ORPHA:431361 OMIM:618230 OMIM:619386 OMIM:617253 OMIM:606054 OMIM:610475 ORPHA:98908 ORPHA:565612 ORPHA:79083 OMIM:619487 ORPHA:247585 OMIM:603471 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:222700 ORPHA:470 ORPHA:1830 OMIM:608189 ORPHA:412057 OMIM:618805 OMIM:613159
 

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