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 proline concentration (HP:0010907)

..Starting node
..Increased level of L-pyroglutamic acid in urine (HP:0410132)

Term ID:

410132

Name:

Increased level of L-pyroglutamic acid in urine

Synonym:

Elevated urine 5-oxoproline; Increased level of 5-oxo-L-proline in urine

Definition:

An increase in the level of L-pyroglutamic acid in the urine.

Comments:

Reference:

HP:0410132

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hydroxyprolinemia (HP:0003260)

Hydroxyprolinuria (HP:0003080)

Hyperprolinemia (HP:0008358)

Prolinuria (HP:0003137)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410132	HP:0410132	Increased level of L-pyroglutamic acid in urine	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	39
HP:0410132	HP:0410132	Increased level of L-pyroglutamic acid in urine	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	5

Genes (2) :GSS OPLAH

Diseases (2) :OMIM:266130 OMIM:260005

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