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:
Abnormal pancreas morphology (HP:0012090)

Parent Node:
Abnormal pancreas size (HP:0012094)

..Starting node
..Pancreatic hyperplasia (HP:0006277)

Term ID:

6277

Name:

Pancreatic hyperplasia

Synonym:

Definition:

Hyperplasia of the pancreas.

Comments:

Reference:

HP:0006277

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the pancreas (HP:0100800)

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:0006277	HP:0006277	Pancreatic hyperplasia	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0006277	HP:0006277	Pancreatic hyperplasia	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0006277	HP:0006277	Pancreatic hyperplasia	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0006277	HP:0006277	Pancreatic hyperplasia	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0006277	HP:0006277	Pancreatic hyperplasia	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1

Genes (5) :CDKN1C H19-ICR IGF2 KCNQ1 KCNQ1OT1

Diseases (1) :OMIM:130650

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