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 the urinary system physiology (HP:0011277)

Grandparent Node:
Recurrent infections (HP:0002719)

Parent Node:
Recurrent urinary tract infections (HP:0000010)

..Starting node
..Recurrent cystitis (HP:0012786)

Term ID:

12786

Name:

Recurrent cystitis

Synonym:

Recurrent bladder infections

Definition:

Repeated infections of the urinary bladder.

Comments:

Reference:

HP:0012786

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent pyelonephritis (HP:0012787)

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:0012786	HP:0012786	Recurrent cystitis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0012786	HP:0012786	Recurrent cystitis	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional	66

Genes (2) :ALMS1 PEPD

Diseases (2) :ORPHA:64 ORPHA:742

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