Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Elevated circulating creatine concentration (HP:0034291)

Term ID:

34291

Name:

Elevated circulating creatine concentration

Synonym:

Definition:

An elevation above the normal range of creatine in the blood circulation.

Comments:

Reference:

HP:0034291

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:0034291	HP:0034291	Elevated circulating creatine concentration	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	122

Genes (1) :SLC6A8

Diseases (1) :OMIM:300352

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