Human Phenotype Ontology

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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 genitourinary system (HP:0000119)

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

Parent Node:
Urogenital fistula (HP:0100589)

..Starting node
..Urethral fistula (HP:0010480)

Term ID:

10480

Name:

Urethral fistula

Synonym:

Definition:

The presence of an abnormal connection between the urethra and another organ or the skin.

Comments:

Reference:

HP:0010480

Genes and Diseases:

Child Nodes:

........

Urethrovaginal fistula (HP:0008716)

........

Rectourethral fistula (HP:0025407)

Sister Nodes:

Bladder fistula (HP:0004321)

Perineal fistula (HP:0004871)

Rectal fistula (HP:0100590)

Vaginal fistula (HP:0004320)

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:0010480	HP:0010480	Urethral fistula	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010480	HP:0010480	Urethral fistula	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010480	HP:0010480	Urethral fistula	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010480	HP:0010480	Urethral fistula	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010480	HP:0010480	Urethral fistula	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010480	HP:0010480	Urethral fistula	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0010480	HP:0010480	Urethral fistula	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010480	HP:0008716	Urethrovaginal fistula	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0010480	HP:0008716	Urethrovaginal fistula	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0010480	HP:0008716	Urethrovaginal fistula	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0010480	HP:0008716	Urethrovaginal fistula	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0010480	HP:0025407	Rectourethral fistula	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0010480	HP:0008716	Urethrovaginal fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0010480	HP:0008716	Urethrovaginal fistula	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136

Genes (7) :DYNC2H1 DYNC2I1 DYNC2I2 IFT80 MID1 UBR1 WDR35

Diseases (3) :ORPHA:93271 OMIM:300000 OMIM:243800

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

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