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
..Beta-cell dysfunction (HP:0006279)

Term ID:

6279

Name:

Beta-cell dysfunction

Synonym:

Definition:

Comments:

Reference:

HP:0006279

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pancreatic islet cell adenoma (HP:0008261)

Pancreatic islet-cell hyperplasia (HP:0004510)

Reduced pancreatic beta cells (HP:0006274)

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:0006279	HP:0006279	Beta-cell dysfunction	0	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.	55

Genes (1) :PAX4

Diseases (1) :OMIM:612227

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