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 2-hydroxybutyric acid concentration (HP:0033418)

Term ID:

33418

Name:

Elevated circulating 2-hydroxybutyric acid concentration

Synonym:

Definition:

Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.

Comments:

Reference:

HP:0033418

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:0033418	HP:0033418	Elevated circulating 2-hydroxybutyric acid concentration	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	34

Genes (1) :NFU1

Diseases (1) :OMIM:605711

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