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 citrulline concentration (HP:0011965)

..Starting node
..Elevated plasma citrulline (HP:0011966)

Term ID:

11966

Name:

Elevated plasma citrulline

Synonym:

Definition:

An increased concentration of citrulline in the blood.

Comments:

Reference:

HP:0011966

Genes and Diseases:

Child Nodes:

Sister Nodes:

Low plasma citrulline (HP:0003572)

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:0011966	HP:0011966	Elevated plasma citrulline	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0011966	HP:0011966	Elevated plasma citrulline	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0011966	HP:0011966	Elevated plasma citrulline	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040281 - Very frequent	82
HP:0011966	HP:0011966	Elevated plasma citrulline	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset		82
HP:0011966	HP:0011966	Elevated plasma citrulline	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.	82
HP:0011966	HP:0011966	Elevated plasma citrulline	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0011966	HP:0011966	Elevated plasma citrulline	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104

Genes (4) :AASS ASS1 SLC25A13 SLC7A7

Diseases (7) :ORPHA:3124 OMIM:215700 ORPHA:247585 OMIM:603471 OMIM:605814 ORPHA:247598 ORPHA:470

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