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:
Azotemia (HP:0002157)

Parent Node:
Hyperammonemia (HP:0001987)

..Starting node
..Asymptomatic hyperammonemia (HP:0008162)

Term ID:

8162

Name:

Asymptomatic hyperammonemia

Synonym:

Hyperammonemia, asymptomatic

Definition:

An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.

Comments:

Reference:

HP:0008162

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute hyperammonemia (HP:0008281)

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:0008162	HP:0008162	Asymptomatic hyperammonemia	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0008162	HP:0008162	Asymptomatic hyperammonemia	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040281 - Very frequent	56

Genes (1) :GLUD1

Diseases (2) :OMIM:606762 ORPHA:35878

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