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

..Starting node
..Pancreatic alpha-cell hyperplasia (HP:4000061)

Term ID:

4000061

Name:

Pancreatic alpha-cell hyperplasia

Synonym:

Definition:

A diffuse and specific increase in the number of alpha-cells.

Comments:

Reference:

HP:4000061

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:4000061	HP:4000061	Pancreatic alpha-cell hyperplasia	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH	1

Genes (1) :GCGR

Diseases (1) :OMIM:619290

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