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:
Pyelonephritis (HP:0012330)

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

..Starting node
..Recurrent pyelonephritis (HP:0012787)

Term ID:

12787

Name:

Recurrent pyelonephritis

Synonym:

Definition:

Repeated episodes of pyelonephritis.

Comments:

Reference:

HP:0012787

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent cystitis (HP:0012786)

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:0012787	HP:0012787	Recurrent pyelonephritis	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional	53

Genes (1) :SHANK3

Diseases (1) :ORPHA:48652

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