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:
Abnormal vagina morphology (HP:0000142)

Parent Node:
Urogenital fistula (HP:0100589)

..Starting node
..Vaginal fistula (HP:0004320)

Term ID:

4320

Name:

Vaginal fistula

Synonym:

Definition:

The presence of a fistula of the vagina.

Comments:

Reference:

HP:0004320

Genes and Diseases:

Child Nodes:

........

Rectovaginal fistula (HP:0000143)

........

Vesicovaginal fistula (HP:0001586)

........

Urethrovaginal fistula (HP:0008716)

Sister Nodes:

Bladder fistula (HP:0004321)

Perineal fistula (HP:0004871)

Rectal fistula (HP:0100590)

Urethral fistula (HP:0010480)

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:0004320	HP:0004320	Vaginal fistula	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0004320	HP:0004320	Vaginal fistula	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0004320	HP:0004320	Vaginal fistula	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0004320	HP:0004320	Vaginal fistula	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0004320	HP:0004320	Vaginal fistula	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0004320	HP:0004320	Vaginal fistula	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0004320	HP:0004320	Vaginal fistula	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0004320	HP:0004320	Vaginal fistula	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0004320	HP:0004320	Vaginal fistula	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0004320	HP:0004320	Vaginal fistula	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0004320	HP:0004320	Vaginal fistula	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0004320	HP:0004320	Vaginal fistula	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0004320	HP:0004320	Vaginal fistula	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0004320	HP:0004320	Vaginal fistula	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0004320	HP:0004320	Vaginal fistula	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0004320	HP:0004320	Vaginal fistula	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0004320	HP:0004320	Vaginal fistula	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0004320	HP:0004320	Vaginal fistula	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0004320	HP:0004320	Vaginal fistula	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0004320	HP:0004320	Vaginal fistula	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0004320	HP:0004320	Vaginal fistula	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0004320	HP:0004320	Vaginal fistula	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0004320	HP:0004320	Vaginal fistula	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0004320	HP:0004320	Vaginal fistula	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0004320	HP:0004320	Vaginal fistula	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0004320	HP:0004320	Vaginal fistula	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0004320	HP:0004320	Vaginal fistula	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0004320	HP:0004320	Vaginal fistula	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0004320	HP:0004320	Vaginal fistula	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0004320	HP:0004320	Vaginal fistula	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0004320	HP:0004320	Vaginal fistula	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0004320	HP:0004320	Vaginal fistula	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0004320	HP:0000143	Rectovaginal fistula	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0004320	HP:0000143	Rectovaginal fistula	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0004320	HP:0000143	Rectovaginal fistula	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0004320	HP:0000143	Rectovaginal fistula	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0004320	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:0004320	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:0004320	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:0004320	HP:0000143	Rectovaginal fistula	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies	.	198
HP:0004320	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:0004320	HP:0000143	Rectovaginal fistula	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0004320	HP:0000143	Rectovaginal fistula	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040284 - Very rare	140
HP:0004320	HP:0000143	Rectovaginal fistula	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0004320	HP:0000143	Rectovaginal fistula	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0004320	HP:0001586	Vesicovaginal fistula	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0004320	HP:0000143	Rectovaginal fistula	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0004320	HP:0000143	Rectovaginal fistula	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0004320	HP:0000143	Rectovaginal fistula	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0004320	HP:0000143	Rectovaginal fistula	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0004320	HP:0000143	Rectovaginal fistula	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0004320	HP:0000143	Rectovaginal fistula	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0004320	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:0004320	HP:0000143	Rectovaginal fistula	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0004320	HP:0000143	Rectovaginal fistula	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0004320	HP:0000143	Rectovaginal fistula	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0004320	HP:0000143	Rectovaginal fistula	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0004320	HP:0000143	Rectovaginal fistula	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0004320	HP:0001586	Vesicovaginal fistula	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0004320	HP:0000143	Rectovaginal fistula	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	HP:0040283 - Occasional	6
HP:0004320	HP:0000143	Rectovaginal fistula	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0004320	HP:0000143	Rectovaginal fistula	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0004320	HP:0008716	Urethrovaginal fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0004320	HP:0000143	Rectovaginal fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0004320	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 (29) :CAPN15 CCNQ DACT1 DDB1 DYNC2H1 DYNC2I1 DYNC2I2 FREM1 IFT80 IL10RB JAK3 KIF7 LONP1 MKKS MNX1 PI4KA POLR1B POLR1C POLR1D POR RECQL4 SALL1 SALL4 SLC35A2 SPINT2 TCOF1 TCTN3 UBR1 WDR35

Diseases (24) :OMIM:619318 OMIM:300707 ORPHA:857 OMIM:617466 OMIM:619426 ORPHA:93271 OMIM:608980 OMIM:612567 ORPHA:35078 OMIM:200990 OMIM:600373 OMIM:236700 OMIM:176450 OMIM:619708 ORPHA:861 OMIM:201750 OMIM:218600 OMIM:107480 OMIM:147750 ORPHA:2307 OMIM:300896 OMIM:270420 ORPHA:2753 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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