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
..Hydroxyprolinemia (HP:0003260)

Term ID:

3260

Name:

Hydroxyprolinemia

Synonym:

High blood hydroxyproline levels

Definition:

An increased concentration of hydroxyproline in the blood.

Comments:

Reference:

HP:0003260

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hydroxyprolinuria (HP:0003080)

Hyperprolinemia (HP:0008358)

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

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:0003260	HP:0003260	Hydroxyprolinemia	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	44

Genes (1) :TNFRSF11B

Diseases (1) :OMIM:239000

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