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 the pancreas (HP:0001732)

Parent Node:
Abnormal pancreas morphology (HP:0012090)

..Starting node
..Pancreatic pseudocyst (HP:0005206)

Term ID:

5206

Name:

Pancreatic pseudocyst

Synonym:

Definition:

Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.

Comments:

Reference:

HP:0005206

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pancreas size (HP:0012094)

Abnormal pancreatic duct morphology (HP:0030992)

Annular pancreas (HP:0001734)

Ectopic pancreatic tissue (HP:0006278)

Hyperechogenic pancreas (HP:0006276)

Pancreas divisum (HP:0030994)

Pancreatic abscess (HP:0025079)

Pancreatic calcification (HP:0005213)

Pancreatic cysts (HP:0001737)

Pancreatic dysplasia (HP:0005232)

Pancreatic fibrosis (HP:0100732)

Pancreatic fistula (HP:0100844)

Pancreatic lymphangiectasis (HP:0006273)

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:0005206	HP:0005206	Pancreatic pseudocyst	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0005206	HP:0005206	Pancreatic pseudocyst	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0005206	HP:0005206	Pancreatic pseudocyst	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.	51
HP:0005206	HP:0005206	Pancreatic pseudocyst	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.	1
HP:0005206	HP:0005206	Pancreatic pseudocyst	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.	34

Genes (5) :CFTR CTRC PRSS1 PRSS2 SPINK1

Diseases (1) :OMIM:167800

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