Human Phenotype Ontology

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:0100819	HP:0100819	Intestinal fistula	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0100819	HP:0100819	Intestinal fistula	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0100819	HP:0100819	Intestinal fistula	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0100819	HP:0100819	Intestinal fistula	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100819	HP:0100819	Intestinal fistula	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100819	HP:0100819	Intestinal fistula	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0100819	HP:0100819	Intestinal fistula	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100819	HP:0100819	Intestinal fistula	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0100819	HP:0100819	Intestinal fistula	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0100819	HP:0100819	Intestinal fistula	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0100819	HP:0100819	Intestinal fistula	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100819	HP:0100819	Intestinal fistula	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0100819	HP:0100819	Intestinal fistula	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100819	HP:0100819	Intestinal fistula	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100819	HP:0100819	Intestinal fistula	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100819	HP:0100819	Intestinal fistula	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100819	HP:0100819	Intestinal fistula	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100819	HP:0100819	Intestinal fistula	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0100819	HP:0100819	Intestinal fistula	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0100819	HP:0100819	Intestinal fistula	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100819	HP:0100819	Intestinal fistula	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0100819	HP:0100819	Intestinal fistula	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0100819	HP:0100819	Intestinal fistula	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0100819	HP:0100819	Intestinal fistula	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0100819	HP:0100819	Intestinal fistula	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0100819	HP:0100819	Intestinal fistula	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100819	HP:0100819	Intestinal fistula	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100819	HP:0100819	Intestinal fistula	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100819	HP:0100819	Intestinal fistula	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0100819	HP:0100819	Intestinal fistula	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100819	HP:0100819	Intestinal fistula	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0100819	HP:0100819	Intestinal fistula	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100819	HP:0100819	Intestinal fistula	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0100819	HP:0100819	Intestinal fistula	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100819	HP:0100819	Intestinal fistula	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0100819	HP:0100819	Intestinal fistula	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0100819	HP:0034255	Colovesical fistula	1	CL E G H
HP:0100819	HP:0100590	Rectal fistula	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0100819	HP:0010447	Anal fistula	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0100819	HP:0100590	Rectal fistula	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100819	HP:0100590	Rectal fistula	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100819	HP:0100590	Rectal fistula	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0100819	HP:0100590	Rectal fistula	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100819	HP:0100590	Rectal fistula	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0100819	HP:0010447	Anal fistula	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0100819	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:0100819	HP:0033279	Enterocutaneous fistula	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100819	HP:0100590	Rectal fistula	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100819	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:0100819	HP:0010447	Anal fistula	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100819	HP:0100590	Rectal fistula	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100819	HP:0010447	Anal fistula	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100819	HP:0100590	Rectal fistula	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100819	HP:0100590	Rectal fistula	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100819	HP:0100590	Rectal fistula	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0100819	HP:0010447	Anal fistula	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0100819	HP:0100590	Rectal fistula	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0100819	HP:0100590	Rectal fistula	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100819	HP:0100590	Rectal fistula	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0100819	HP:0010447	Anal fistula	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0100819	HP:0100590	Rectal fistula	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0100819	HP:0100590	Rectal fistula	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0100819	HP:0100590	Rectal fistula	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0100819	HP:0100590	Rectal fistula	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100819	HP:0100590	Rectal fistula	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100819	HP:0100590	Rectal fistula	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100819	HP:0100590	Rectal fistula	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0100819	HP:0100590	Rectal fistula	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100819	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:0100819	HP:0010447	Anal fistula	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100819	HP:0100590	Rectal fistula	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0100819	HP:0100590	Rectal fistula	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100819	HP:0010447	Anal fistula	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0100819	HP:0100590	Rectal fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0100819	HP:0034452	Rectoureteral fistula	2	CL E G H
HP:0100819	HP:0034451	Rectovesical fistula	2	CL E G H
HP:0100819	HP:0000143	Rectovaginal fistula	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0100819	HP:0005218	Anoperineal fistula	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0100819	HP:0004792	Rectoperineal fistula	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100819	HP:0000143	Rectovaginal fistula	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0100819	HP:0004792	Rectoperineal fistula	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0100819	HP:0000143	Rectovaginal fistula	2	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0100819	HP:0000143	Rectovaginal fistula	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100819	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:0100819	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:0100819	HP:0000143	Rectovaginal fistula	2	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100819	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:0100819	HP:0005218	Anoperineal fistula	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0100819	HP:0000143	Rectovaginal fistula	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0100819	HP:0005218	Anoperineal fistula	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0100819	HP:0000143	Rectovaginal fistula	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100819	HP:0025407	Rectourethral fistula	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100819	HP:0000143	Rectovaginal fistula	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0100819	HP:0000143	Rectovaginal fistula	2	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0100819	HP:0000143	Rectovaginal fistula	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100819	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:0100819	HP:0005218	Anoperineal fistula	2	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0100819	HP:0000143	Rectovaginal fistula	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0100819	HP:0000143	Rectovaginal fistula	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0100819	HP:0000143	Rectovaginal fistula	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0100819	HP:0000143	Rectovaginal fistula	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0100819	HP:0000143	Rectovaginal fistula	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0100819	HP:0004792	Rectoperineal fistula	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0100819	HP:0004792	Rectoperineal fistula	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0100819	HP:0000143	Rectovaginal fistula	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0100819	HP:0000143	Rectovaginal fistula	2	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0100819	HP:0000143	Rectovaginal fistula	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100819	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:0100819	HP:0005218	Anoperineal fistula	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100819	HP:0000143	Rectovaginal fistula	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0100819	HP:0000143	Rectovaginal fistula	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0100819	HP:0005218	Anoperineal fistula	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0100819	HP:0000143	Rectovaginal fistula	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0100819	HP:0025026	H-type rectovestibular fistula	3	CL E G H