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
..Abnormal circulating arginine concentration (HP:0010909)

Term ID:

10909

Name:

Abnormal circulating arginine concentration

Synonym:

Abnormality of arginine metabolism

Definition:

Any deviation from the normal concentration of arginine in the blood circulation.

Comments:

Reference:

HP:0010909

Genes and Diseases:

Child Nodes:

........

Argininuria (HP:0003268)

........

Hypoargininemia (HP:0005961)

Sister Nodes:

Abnormal circulating glutamine concentration (HP:0010903)

Abnormal circulating proline concentration (HP:0010907)

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

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:0010909	HP:0010909	Abnormal circulating arginine concentration	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0010909	HP:0010909	Abnormal circulating arginine concentration	0	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria		81
HP:0010909	HP:0010909	Abnormal circulating arginine concentration	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria		81
HP:0010909	HP:0010909	Abnormal circulating arginine concentration	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0010909	HP:0010909	Abnormal circulating arginine concentration	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to		124
HP:0010909	HP:0010909	Abnormal circulating arginine concentration	0	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency		124
HP:0010909	HP:0010909	Abnormal circulating arginine concentration	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional	92
HP:0010909	HP:0010909	Abnormal circulating arginine concentration	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0010909	HP:0010909	Abnormal circulating arginine concentration	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0010909	HP:0500153	Hyperargininemia	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0010909	HP:0005961	Hypoargininemia	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0010909	HP:0005961	Hypoargininemia	1	ASL CL E G H	435	746	ORPHA:23	Argininosuccinic aciduria	HP:0040281 - Very frequent	81
HP:0010909	HP:0005961	Hypoargininemia	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0010909	HP:0005961	Hypoargininemia	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0010909	HP:0005961	Hypoargininemia	1	CPS1 CL E G H	1373	2323	ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency	HP:0040281 - Very frequent	124
HP:0010909	HP:0005961	Hypoargininemia	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent	92
HP:0010909	HP:0500153	Hyperargininemia	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82

Genes (6) :ARG1 ASL ASS1 CPS1 PNPO SLC25A13

Diseases (9) :OMIM:207800 ORPHA:23 OMIM:207900 OMIM:215700 OMIM:237300 ORPHA:147 ORPHA:79096 OMIM:603471 ORPHA:247598

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

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