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 endocrine pancreas physiology (HP:0012093)

Parent Node:
Abnormality of the pancreatic islet cells (HP:0006476)

..Starting node
..Reduced pancreatic beta cells (HP:0006274)

Term ID:

6274

Name:

Reduced pancreatic beta cells

Synonym:

Definition:

Reduced number of beta cells in the pancreatic islets of Langerhans.

Comments:

Reference:

HP:0006274

Genes and Diseases:

Child Nodes:

Sister Nodes:

Beta-cell dysfunction (HP:0006279)

Pancreatic islet cell adenoma (HP:0008261)

Pancreatic islet-cell hyperplasia (HP:0004510)

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:0006274	HP:0006274	Reduced pancreatic beta cells	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0006274	HP:0006274	Reduced pancreatic beta cells	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0006274	HP:0006274	Reduced pancreatic beta cells	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0006274	HP:0006274	Reduced pancreatic beta cells	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0006274	HP:0006274	Reduced pancreatic beta cells	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0006274	HP:0006274	Reduced pancreatic beta cells	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0006274	HP:0006274	Reduced pancreatic beta cells	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110

Genes (7) :ABCC8 EIF2AK3 GCK INS KCNJ11 PDX1 STAT3

Diseases (2) :ORPHA:99885 OMIM:226980

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