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:
Abnormal circulating hormone concentration (HP:0003117)

Parent Node:
Abnormality of circulating catecholamine level (HP:0012099)

..Starting node
..Elevated circulating catecholamine level (HP:0003334)

Term ID:

3334

Name:

Elevated circulating catecholamine level

Synonym:

Definition:

An abnormal increase in catecholamine concentration in the blood.

Comments:

Reference:

HP:0003334

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0003334	HP:0003334	Elevated circulating catecholamine level	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0003334	HP:0003334	Elevated circulating catecholamine level	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0003334	HP:0003334	Elevated circulating catecholamine level	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0003334	HP:0003334	Elevated circulating catecholamine level	0	SLC25A11 CL E G H	8402	10981	OMIM:618464	PARAGANGLIOMAS 6; PGL6
HP:0003334	HP:0003334	Elevated circulating catecholamine level	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490

Genes (5) :CCND1 SDHC SDHD SLC25A11 VHL

Diseases (4) :ORPHA:892 OMIM:605373 OMIM:168000 OMIM:618464

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