Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 upper urinary tract (HP:0010935)

Parent Node:
Abnormality of the ureter (HP:0000069)

..Starting node
..Ureteral atresia (HP:0005999)

Term ID:

5999

Name:

Ureteral atresia

Synonym:

Definition:

A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.

Comments:

Reference:

HP:0005999

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital megaureter (HP:0008676)

Hydroureter (HP:0000072)

Neoplasm of the ureter (HP:0100516)

Ureteral agenesis (HP:0012300)

Ureteral duplication (HP:0000073)

Ureteral dysgenesis (HP:0008631)

Ureteral obstruction (HP:0006000)

Ureterocele (HP:0000070)

Vesicoureteral reflux (HP:0000076)

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:0005999	HP:0005999	Ureteral atresia	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent	40
HP:0005999	HP:0005999	Ureteral atresia	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0005999	HP:0005999	Ureteral atresia	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157

Genes (3) :EPG5 NADSYN1 NPHP3

Diseases (3) :ORPHA:1493 OMIM:618845 OMIM:208540

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