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 ornithine concentration (HP:0012025)

..Starting node
..Hyperornithinemia (HP:0012026)

Term ID:

12026

Name:

Hyperornithinemia

Synonym:

High blood ornithine levels

Definition:

Increased concentration of ornithine in the blood.

Comments:

Reference:

HP:0012026

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0012026	HP:0012026	Hyperornithinemia	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040281 - Very frequent	94
HP:0012026	HP:0012026	Hyperornithinemia	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94
HP:0012026	HP:0012026	Hyperornithinemia	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0012026	HP:0012026	Hyperornithinemia	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040281 - Very frequent	88

Genes (2) :OAT SLC25A15

Diseases (4) :ORPHA:414 OMIM:258870 OMIM:238970 ORPHA:415

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