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 glutamine family amino acid concentration (HP:0010902)

..Starting node
..Increased level of L-glutamic acid in blood (HP:0410068)

Term ID:

410068

Name:

Increased level of L-glutamic acid in blood

Synonym:

Definition:

An increase in the level of L-glutamic acid in the blood.

Comments:

Reference:

HP:0410068

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating arginine concentration (HP:0010909)

Abnormal circulating glutamine concentration (HP:0010903)

Abnormal circulating proline concentration (HP:0010907)

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:0410068	HP:0410068	Increased level of L-glutamic acid in blood	0	NAGS CL E G H	162417	17996	OMIM:237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	36

Genes (1) :NAGS

Diseases (1) :OMIM:237310

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