Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of pancreas physiology (HP:0012091)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Pancreatitis (HP:0001733)

..Starting node
..Chronic pancreatitis (HP:0006280)

Term ID:

6280

Name:

Chronic pancreatitis

Synonym:

Chronic pancreas inflammation

Definition:

A chronic form of pancreatitis.

Comments:

Reference:

HP:0006280

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute pancreatitis (HP:0001735)

Chronic calcifying pancreatitis (HP:0005236)

Recurrent pancreatitis (HP:0100027)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006280	HP:0006280	Chronic pancreatitis	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional	65
HP:0006280	HP:0006280	Chronic pancreatitis	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0006280	HP:0006280	Chronic pancreatitis	0	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.	34
HP:0006280	HP:0006280	Chronic pancreatitis	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	HP:0040283 - Occasional	109

Genes (4) :PNPLA2 SLC37A4 SPINK1 XPNPEP3

Diseases (4) :ORPHA:98908 OMIM:232240 OMIM:608189 OMIM:613159

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