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 histidine concentration (HP:0010904)

..Starting node
..Hyperhistidinemia (HP:0010906)

Term ID:

10906

Name:

Hyperhistidinemia

Synonym:

High blood histidine level; Histidinemia

Definition:

An increased concentration of histidine in the blood.

Comments:

Reference:

HP:0010906

Genes and Diseases:

Child Nodes:

Sister Nodes:

Histidinuria (HP:0002927)

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:0010906	HP:0010906	Hyperhistidinemia	0	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia	HP:0040280 - Obligate	73

Genes (1) :HAL

Diseases (1) :ORPHA:2157

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