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
..Congenital megaureter (HP:0008676)

Term ID:

8676

Name:

Congenital megaureter

Synonym:

Congenital megaloureter

Definition:

A developmental disturbance with extreme ureteral dilatation.

Comments:

Reference:

HP:0008676

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hydroureter (HP:0000072)

Neoplasm of the ureter (HP:0100516)

Ureteral agenesis (HP:0012300)

Ureteral atresia (HP:0005999)

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:0008676	HP:0008676	Congenital megaureter	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0008676	HP:0008676	Congenital megaureter	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0008676	HP:0008676	Congenital megaureter	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2	.	5

Genes (3) :PIGN PIGT TBX18

Diseases (3) :ORPHA:280633 ORPHA:369837 OMIM:143400

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