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 pancreatic islet cells (HP:0006476)

Parent Node:
Pancreatic islet-cell hyperplasia (HP:0004510)

..Starting node
..Focal pancreatic islet hyperplasia (HP:0031223)

Term ID:

31223

Name:

Focal pancreatic islet hyperplasia

Synonym:

Definition:

Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.

Comments:

Reference:

HP:0031223

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diffuse pancreatic islet hyperplasia (HP:0031224)

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:0031223	HP:0031223	Focal pancreatic islet hyperplasia	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0031223	HP:0031223	Focal pancreatic islet hyperplasia	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127

Genes (2) :ABCC8 KCNJ11

Diseases (2) :ORPHA:276575 ORPHA:79644

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