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 male external genitalia (HP:0000032)

Grandparent Node:
Abnormality of the lower urinary tract (HP:0010936)

Parent Node:
Abnormality of the urethra (HP:0000795)

..Starting node
..Urethral diverticulum (HP:0008722)

Term ID:

8722

Name:

Urethral diverticulum

Synonym:

Definition:

The presence of a diverticulum (sac or pouch) in the wall of the urethra.

Comments:

Reference:

HP:0008722

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital megalourethra (HP:0030723)

Displacement of the urethral meatus (HP:0100627)

Distal urethral duplication (HP:0008706)

Neoplasm of the urethra (HP:0100517)

Patulous urethra (HP:0025417)

Urethral atresia (HP:0000068)

Urethral fistula (HP:0010480)

Urethral obstruction (HP:0000796)

Urethritis (HP:0500006)

Urethrocele (HP:0100821)

Urogenital sinus anomaly (HP:0100779)

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:0008722	HP:0008722	Urethral diverticulum	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare	125
HP:0008722	HP:0008722	Urethral diverticulum	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0008722	HP:0008722	Urethral diverticulum	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0008722	HP:0008722	Urethral diverticulum	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0008722	HP:0008722	Urethral diverticulum	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare	5
HP:0008722	HP:0008722	Urethral diverticulum	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4

Genes (6) :AR EFEMP2 FBLN5 LTBP1 MAMLD1 PLD1

Diseases (3) :ORPHA:95706 ORPHA:90349 OMIM:212093

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