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:
Abnormal circulating glutamine family amino acid concentration (HP:0010902)

Parent Node:
Abnormal circulating arginine concentration (HP:0010909)

..Starting node
..Hypoargininemia (HP:0005961)

Term ID:

5961

Name:

Hypoargininemia

Synonym:

Arginine deficiency; Low blood arginine levels

Definition:

A decreased concentration of arginine in the blood.

Comments:

Reference:

HP:0005961

Genes and Diseases:

Child Nodes:

Sister Nodes:

Argininuria (HP:0003268)

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:0005961	HP:0005961	Hypoargininemia	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040281 - Very frequent	81
HP:0005961	HP:0005961	Hypoargininemia	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0005961	HP:0005961	Hypoargininemia	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0005961	HP:0005961	Hypoargininemia	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0005961	HP:0005961	Hypoargininemia	0	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency	HP:0040281 - Very frequent	124
HP:0005961	HP:0005961	Hypoargininemia	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent	92

Genes (4) :ASL ASS1 CPS1 PNPO

Diseases (6) :ORPHA:23 OMIM:207900 OMIM:215700 OMIM:237300 ORPHA:147 ORPHA:79096

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