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 amino acid metabolism (HP:0004337)

Parent Node:
Abnormal circulating branched chain amino acid concentration (HP:0010892)

..Starting node
..Elevated plasma branched chain amino acids (HP:0008344)

Term ID:

8344

Name:

Elevated plasma branched chain amino acids

Synonym:

Definition:

An increased concentration of a branched chain amino acid in the blood.

Comments:

Reference:

HP:0008344

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating isoleucine concentration (HP:0010912)

Abnormal circulating leucine concentration (HP:0004357)

Abnormal circulating valine concentration (HP:0010914)

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:0008344	HP:0008344	Elevated plasma branched chain amino acids	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.	120
HP:0008344	HP:0008344	Elevated plasma branched chain amino acids	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.	162
HP:0008344	HP:0008344	Elevated plasma branched chain amino acids	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.	156
HP:0008344	HP:0008344	Elevated plasma branched chain amino acids	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent	89

Genes (4) :BCKDHA BCKDHB DBT DLD

Diseases (2) :OMIM:248600 ORPHA:2394

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