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
..Elevated circulating 4-methyl-2-oxopentanoic acid concentration (HP:0033437)

Term ID:

33437

Name:

Elevated circulating 4-methyl-2-oxopentanoic acid concentration

Synonym:

Increased circulating alpha-ketoisocaproic acid concentration

Definition:

Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation.

Comments:

Reference:

HP:0033437

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033437	HP:0033437	Elevated circulating 4-methyl-2-oxopentanoic acid concentration	0	CL E G H

Genes (0) :

Diseases (0) :

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