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 butyrylcarnitine concentration (HP:0033446)

Term ID:

33446

Name:

Elevated circulating butyrylcarnitine concentration

Synonym:

Elevated circulating O-butyrylcarnitine concentration

Definition:

Increased concentration of O-butyrylcarnitine in the blood circulation.

Comments:

Reference:

HP:0033446

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:0033446	HP:0033446	Elevated circulating butyrylcarnitine concentration	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	42

Genes (1) :ETHE1

Diseases (1) :OMIM:602473

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