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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the genitourinary system (HP:0000119)

..Starting node
..Urogenital fistula (HP:0100589)

Term ID:

100589

Name:

Urogenital fistula

Synonym:

Definition:

The presence of a fistula affecting the genitourinary system.

Comments:

Reference:

HP:0100589

Genes and Diseases:

Child Nodes:

........

Vaginal fistula (HP:0004320)

................... HP:0000143 Rectovaginal fistula
................... HP:0001586 Vesicovaginal fistula
................... HP:0008716 Urethrovaginal fistula

........

Bladder fistula (HP:0004321)

................... HP:0001586 Vesicovaginal fistula

........

Perineal fistula (HP:0004871)

................... HP:0004792 Rectoperineal fistula
................... HP:0005218 Anoperineal fistula

........

Urethral fistula (HP:0010480)

................... HP:0008716 Urethrovaginal fistula
................... HP:0025407 Rectourethral fistula

........

Rectal fistula (HP:0100590)

................... HP:0000143 Rectovaginal fistula
................... HP:0004792 Rectoperineal fistula
................... HP:0025025 Rectovestibular fistula
................... HP:0025407 Rectourethral fistula

Sister Nodes:

Abnormality of the genital system (HP:0000078)

Abnormality of the urinary system (HP:0000079)

Cloacal abnormality (HP:0012620)

Neoplasm of the genitourinary tract (HP:0007379)

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:0100589	HP:0100589	Urogenital fistula	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0100589	HP:0100589	Urogenital fistula	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0100589	HP:0100589	Urogenital fistula	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0100589	HP:0100589	Urogenital fistula	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100589	HP:0100589	Urogenital fistula	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100589	HP:0100589	Urogenital fistula	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0100589	HP:0100589	Urogenital fistula	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100589	HP:0100589	Urogenital fistula	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0100589	HP:0100589	Urogenital fistula	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0100589	HP:0100589	Urogenital fistula	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0100589	HP:0100589	Urogenital fistula	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100589	HP:0100589	Urogenital fistula	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100589	HP:0100589	Urogenital fistula	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0100589	HP:0100589	Urogenital fistula	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	2
HP:0100589	HP:0100589	Urogenital fistula	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0100589	HP:0100589	Urogenital fistula	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	1
HP:0100589	HP:0100589	Urogenital fistula	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0100589	HP:0100589	Urogenital fistula	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0100589	HP:0100589	Urogenital fistula	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0100589	HP:0100589	Urogenital fistula	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100589	HP:0100589	Urogenital fistula	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	4
HP:0100589	HP:0100589	Urogenital fistula	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0100589	HP:0100589	Urogenital fistula	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100589	HP:0100589	Urogenital fistula	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100589	HP:0100589	Urogenital fistula	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100589	HP:0100589	Urogenital fistula	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0100589	HP:0100589	Urogenital fistula	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100589	HP:0100589	Urogenital fistula	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0100589	HP:0100589	Urogenital fistula	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100589	HP:0100589	Urogenital fistula	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0100589	HP:0100589	Urogenital fistula	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0100589	HP:0100589	Urogenital fistula	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0100589	HP:0100589	Urogenital fistula	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100589	HP:0100589	Urogenital fistula	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0100589	HP:0100589	Urogenital fistula	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0100589	HP:0100589	Urogenital fistula	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0100589	HP:0100589	Urogenital fistula	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0100589	HP:0100589	Urogenital fistula	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0100589	HP:0100589	Urogenital fistula	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0100589	HP:0100589	Urogenital fistula	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional	445
HP:0100589	HP:0100589	Urogenital fistula	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100589	HP:0100589	Urogenital fistula	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent	572
HP:0100589	HP:0100589	Urogenital fistula	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0100589	HP:0100589	Urogenital fistula	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100589	HP:0100589	Urogenital fistula	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100589	HP:0100589	Urogenital fistula	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0100589	HP:0100589	Urogenital fistula	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100589	HP:0100589	Urogenital fistula	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0100589	HP:0100589	Urogenital fistula	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0100589	HP:0100589	Urogenital fistula	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100589	HP:0100589	Urogenital fistula	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0100589	HP:0100589	Urogenital fistula	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100589	HP:0100589	Urogenital fistula	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0100589	HP:0100589	Urogenital fistula	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0100589	HP:0100589	Urogenital fistula	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0100589	HP:0100589	Urogenital fistula	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0100589	HP:0004320	Vaginal fistula	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0100589	HP:0004320	Vaginal fistula	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0100589	HP:0100590	Rectal fistula	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0100589	HP:0004871	Perineal fistula	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0100589	HP:0004871	Perineal fistula	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100589	HP:0100590	Rectal fistula	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100589	HP:0004871	Perineal fistula	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100589	HP:0004320	Vaginal fistula	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100589	HP:0100590	Rectal fistula	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100589	HP:0004320	Vaginal fistula	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0100589	HP:0100590	Rectal fistula	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0100589	HP:0100590	Rectal fistula	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100589	HP:0004320	Vaginal fistula	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100589	HP:0100590	Rectal fistula	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0100589	HP:0010480	Urethral fistula	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0100589	HP:0004320	Vaginal fistula	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0100589	HP:0010480	Urethral fistula	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100589	HP:0004320	Vaginal fistula	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100589	HP:0004320	Vaginal fistula	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100589	HP:0010480	Urethral fistula	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0100589	HP:0004871	Perineal fistula	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0100589	HP:0004320	Vaginal fistula	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0100589	HP:0100590	Rectal fistula	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0100589	HP:0004320	Vaginal fistula	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0100589	HP:0010480	Urethral fistula	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0100589	HP:0004320	Vaginal fistula	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100589	HP:0100590	Rectal fistula	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100589	HP:0100590	Rectal fistula	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0100589	HP:0004320	Vaginal fistula	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0100589	HP:0004871	Perineal fistula	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100589	HP:0004320	Vaginal fistula	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100589	HP:0100590	Rectal fistula	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100589	HP:0004871	Perineal fistula	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100589	HP:0100590	Rectal fistula	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100589	HP:0004320	Vaginal fistula	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100589	HP:0010480	Urethral fistula	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100589	HP:0100590	Rectal fistula	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100589	HP:0004320	Vaginal fistula	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0100589	HP:0100590	Rectal fistula	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0100589	HP:0004321	Bladder fistula	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0100589	HP:0004320	Vaginal fistula	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0100589	HP:0100590	Rectal fistula	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0100589	HP:0100590	Rectal fistula	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100589	HP:0004320	Vaginal fistula	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100589	HP:0100590	Rectal fistula	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0100589	HP:0004871	Perineal fistula	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0100589	HP:0004320	Vaginal fistula	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0100589	HP:0100590	Rectal fistula	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0100589	HP:0100590	Rectal fistula	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0100589	HP:0004320	Vaginal fistula	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0100589	HP:0004320	Vaginal fistula	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0100589	HP:0100590	Rectal fistula	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0100589	HP:0004320	Vaginal fistula	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0100589	HP:0004321	Bladder fistula	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0100589	HP:0004320	Vaginal fistula	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100589	HP:0100590	Rectal fistula	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100589	HP:0004871	Perineal fistula	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0100589	HP:0100590	Rectal fistula	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100589	HP:0004320	Vaginal fistula	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100589	HP:0004871	Perineal fistula	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100589	HP:0100590	Rectal fistula	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100589	HP:0004320	Vaginal fistula	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100589	HP:0004871	Perineal fistula	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100589	HP:0004320	Vaginal fistula	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0100589	HP:0100590	Rectal fistula	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0100589	HP:0100590	Rectal fistula	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100589	HP:0004320	Vaginal fistula	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100589	HP:0004321	Bladder fistula	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0100589	HP:0004320	Vaginal fistula	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0100589	HP:0100590	Rectal fistula	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0100589	HP:0004320	Vaginal fistula	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0100589	HP:0004871	Perineal fistula	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100589	HP:0004320	Vaginal fistula	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0100589	HP:0100590	Rectal fistula	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0100589	HP:0004871	Perineal fistula	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0100589	HP:0100590	Rectal fistula	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100589	HP:0004320	Vaginal fistula	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100589	HP:0004871	Perineal fistula	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0100589	HP:0100590	Rectal fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0100589	HP:0004320	Vaginal fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0100589	HP:0010480	Urethral fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0100589	HP:0010480	Urethral fistula	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0100589	HP:0004320	Vaginal fistula	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0100589	HP:0034452	Rectoureteral fistula	2	CL E G H
HP:0100589	HP:0034451	Rectovesical fistula	2	CL E G H
HP:0100589	HP:0034255	Colovesical fistula	2	CL E G H
HP:0100589	HP:0000143	Rectovaginal fistula	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0100589	HP:0005218	Anoperineal fistula	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0100589	HP:0004792	Rectoperineal fistula	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100589	HP:0000143	Rectovaginal fistula	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0100589	HP:0004792	Rectoperineal fistula	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0100589	HP:0000143	Rectovaginal fistula	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0100589	HP:0000143	Rectovaginal fistula	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100589	HP:0008716	Urethrovaginal fistula	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	304
HP:0100589	HP:0008716	Urethrovaginal fistula	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0100589	HP:0008716	Urethrovaginal fistula	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0100589	HP:0005218	Anoperineal fistula	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0100589	HP:0000143	Rectovaginal fistula	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies	.	198
HP:0100589	HP:0008716	Urethrovaginal fistula	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	65
HP:0100589	HP:0000143	Rectovaginal fistula	2	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100589	HP:0000143	Rectovaginal fistula	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040284 - Very rare	140
HP:0100589	HP:0005218	Anoperineal fistula	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0100589	HP:0000143	Rectovaginal fistula	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0100589	HP:0005218	Anoperineal fistula	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0100589	HP:0000143	Rectovaginal fistula	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100589	HP:0025407	Rectourethral fistula	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100589	HP:0001586	Vesicovaginal fistula	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0100589	HP:0000143	Rectovaginal fistula	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0100589	HP:0000143	Rectovaginal fistula	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0100589	HP:0000143	Rectovaginal fistula	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100589	HP:0025025	Rectovestibular fistula	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0100589	HP:0005218	Anoperineal fistula	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0100589	HP:0000143	Rectovaginal fistula	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0100589	HP:0000143	Rectovaginal fistula	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0100589	HP:0000143	Rectovaginal fistula	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0100589	HP:0001586	Vesicovaginal fistula	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0100589	HP:0000143	Rectovaginal fistula	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0100589	HP:0004792	Rectoperineal fistula	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0100589	HP:0000143	Rectovaginal fistula	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0100589	HP:0004792	Rectoperineal fistula	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0100589	HP:0000143	Rectovaginal fistula	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0100589	HP:0000143	Rectovaginal fistula	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100589	HP:0000143	Rectovaginal fistula	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0100589	HP:0001586	Vesicovaginal fistula	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0100589	HP:0000143	Rectovaginal fistula	2	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:0100589	HP:0005218	Anoperineal fistula	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100589	HP:0000143	Rectovaginal fistula	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0100589	HP:0000143	Rectovaginal fistula	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0100589	HP:0005218	Anoperineal fistula	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0100589	HP:0000143	Rectovaginal fistula	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0100589	HP:0008716	Urethrovaginal fistula	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0100589	HP:0008716	Urethrovaginal fistula	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent	136
HP:0100589	HP:0025026	H-type rectovestibular fistula	3	CL E G H

Genes (52) :CAPN15 CCNQ CD3G CDK8 DACT1 DDB1 DLL3 DOCK2 DYNC2H1 DYNC2I1 DYNC2I2 ELF4 FGF20 FREM1 GFRA1 GREB1L HES7 IFT80 IL10RB ITGA8 JAK3 KDM6A KIF7 KMT2D LFNG LONP1 MESP2 MID1 MKKS MNX1 OCRL PI4KA PIGN PKP1 POLR1B POLR1C POLR1D POR RECQL4 RET RIPPLY2 SALL1 SALL4 SLC35A2 SPINT2 SYK TCOF1 TCTN3 TGFB1 UBR1 WDR35 WNT9B

Diseases (38) :OMIM:619318 OMIM:300707 OMIM:615607 OMIM:618748 ORPHA:857 OMIM:617466 OMIM:619426 ORPHA:2311 OMIM:616433 ORPHA:93271 OMIM:301074 ORPHA:1848 OMIM:608980 OMIM:612567 ORPHA:35078 OMIM:147920 OMIM:200990 OMIM:600373 OMIM:300000 OMIM:236700 OMIM:176450 ORPHA:534 OMIM:619708 ORPHA:280633 ORPHA:158668 ORPHA:861 OMIM:201750 ORPHA:1225 OMIM:218600 OMIM:107480 ORPHA:2307 OMIM:147750 OMIM:300896 OMIM:270420 OMIM:619381 ORPHA:2753 OMIM:618213 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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