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 genitourinary system (HP:0000119)

Parent Node:
Abnormality of bladder morphology (HP:0025487)

Parent Node:
Urogenital fistula (HP:0100589)

..Starting node
..Bladder fistula (HP:0004321)

Term ID:

4321

Name:

Bladder fistula

Synonym:

Definition:

The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.

Comments:

Reference:

HP:0004321

Genes and Diseases:

Child Nodes:

........

Vesicovaginal fistula (HP:0001586)

Sister Nodes:

Perineal fistula (HP:0004871)

Rectal fistula (HP:0100590)

Urethral fistula (HP:0010480)

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:0004321	HP:0004321	Bladder fistula	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0004321	HP:0004321	Bladder fistula	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0004321	HP:0004321	Bladder fistula	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0004321	HP:0034255	Colovesical fistula	1	CL E G H
HP:0004321	HP:0034451	Rectovesical fistula	1	CL E G H
HP:0004321	HP:0001586	Vesicovaginal fistula	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0004321	HP:0001586	Vesicovaginal fistula	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0004321	HP:0001586	Vesicovaginal fistula	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27

Genes (3) :MKKS POR SLC35A2

Diseases (3) :OMIM:236700 OMIM:201750 OMIM:300896

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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