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 rectum morphology (HP:0002034)

Parent Node:
Intestinal fistula (HP:0100819)

Parent Node:
Urogenital fistula (HP:0100589)

..Starting node
..Rectal fistula (HP:0100590)

Term ID:

100590

Name:

Rectal fistula

Synonym:

Definition:

The presence of a fistula affecting the rectum.

Comments:

Reference:

HP:0100590

Genes and Diseases:

Child Nodes:

........

Rectovaginal fistula (HP:0000143)

........

Rectoperineal fistula (HP:0004792)

........

Rectovestibular fistula (HP:0025025)

................... HP:0025026 H-type rectovestibular fistula

........

Rectourethral fistula (HP:0025407)

Sister Nodes:

Bladder fistula (HP:0004321)

Perineal fistula (HP:0004871)

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:0100590	HP:0100590	Rectal fistula	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0100590	HP:0100590	Rectal fistula	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100590	HP:0100590	Rectal fistula	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100590	HP:0100590	Rectal fistula	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2		2
HP:0100590	HP:0100590	Rectal fistula	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100590	HP:0100590	Rectal fistula	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0100590	HP:0100590	Rectal fistula	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0100590	HP:0100590	Rectal fistula	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100590	HP:0100590	Rectal fistula	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0100590	HP:0100590	Rectal fistula	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0100590	HP:0100590	Rectal fistula	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100590	HP:0100590	Rectal fistula	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100590	HP:0100590	Rectal fistula	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome		69
HP:0100590	HP:0100590	Rectal fistula	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0100590	HP:0100590	Rectal fistula	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100590	HP:0100590	Rectal fistula	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0100590	HP:0100590	Rectal fistula	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0100590	HP:0100590	Rectal fistula	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0100590	HP:0100590	Rectal fistula	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0100590	HP:0100590	Rectal fistula	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0100590	HP:0100590	Rectal fistula	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100590	HP:0100590	Rectal fistula	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100590	HP:0100590	Rectal fistula	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100590	HP:0100590	Rectal fistula	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome		86
HP:0100590	HP:0100590	Rectal fistula	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0100590	HP:0100590	Rectal fistula	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0100590	HP:0100590	Rectal fistula	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100590	HP:0100590	Rectal fistula	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0100590	HP:0034452	Rectoureteral fistula	1	CL E G H
HP:0100590	HP:0034451	Rectovesical fistula	1	CL E G H
HP:0100590	HP:0000143	Rectovaginal fistula	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0100590	HP:0004792	Rectoperineal fistula	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0100590	HP:0004792	Rectoperineal fistula	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0100590	HP:0000143	Rectovaginal fistula	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0100590	HP:0000143	Rectovaginal fistula	1	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0100590	HP:0000143	Rectovaginal fistula	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0100590	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:0100590	HP:0000143	Rectovaginal fistula	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0100590	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:0100590	HP:0000143	Rectovaginal fistula	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0100590	HP:0000143	Rectovaginal fistula	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0100590	HP:0025407	Rectourethral fistula	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100590	HP:0000143	Rectovaginal fistula	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0100590	HP:0000143	Rectovaginal fistula	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0100590	HP:0000143	Rectovaginal fistula	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0100590	HP:0025025	Rectovestibular fistula	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0100590	HP:0000143	Rectovaginal fistula	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0100590	HP:0000143	Rectovaginal fistula	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0100590	HP:0000143	Rectovaginal fistula	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0100590	HP:0000143	Rectovaginal fistula	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0100590	HP:0000143	Rectovaginal fistula	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0100590	HP:0004792	Rectoperineal fistula	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0100590	HP:0000143	Rectovaginal fistula	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0100590	HP:0004792	Rectoperineal fistula	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0100590	HP:0000143	Rectovaginal fistula	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0100590	HP:0000143	Rectovaginal fistula	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0100590	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:0100590	HP:0000143	Rectovaginal fistula	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0100590	HP:0000143	Rectovaginal fistula	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0100590	HP:0000143	Rectovaginal fistula	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0100590	HP:0025026	H-type rectovestibular fistula	2	CL E G H

Genes (25) :CCNQ CDK8 DACT1 DDB1 DOCK2 FREM1 IL10RB JAK3 KIF7 LONP1 MID1 MKKS MNX1 PI4KA PIGN POLR1B POLR1C POLR1D RECQL4 SALL1 SALL4 SPINT2 TCOF1 TCTN3 UBR1

Diseases (24) :OMIM:300707 OMIM:618748 ORPHA:857 OMIM:617466 OMIM:619426 OMIM:616433 OMIM:608980 OMIM:612567 ORPHA:35078 OMIM:200990 OMIM:600373 OMIM:300000 OMIM:236700 OMIM:176450 OMIM:619708 ORPHA:280633 ORPHA:861 OMIM:218600 OMIM:107480 OMIM:147750 ORPHA:2307 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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