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:
Abnormal vagina morphology (HP:0000142)

Grandparent Node:
Urogenital fistula (HP:0100589)

Parent Node:
Rectal fistula (HP:0100590)

Parent Node:
Vaginal fistula (HP:0004320)

..Starting node
..Rectovaginal fistula (HP:0000143)

Term ID:

143

Name:

Rectovaginal fistula

Synonym:

Abnormal connection between rectum and vagina

Definition:

The presence of a fistula between the vagina and the rectum.

Comments:

Reference:

HP:0000143

Genes and Diseases:

Child Nodes:

Sister Nodes:

Urethrovaginal fistula (HP:0008716)

Vesicovaginal fistula (HP:0001586)

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:0000143	HP:0000143	Rectovaginal fistula	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000143	HP:0000143	Rectovaginal fistula	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0000143	HP:0000143	Rectovaginal fistula	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000143	HP:0000143	Rectovaginal fistula	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000143	HP:0000143	Rectovaginal fistula	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies	.	198
HP:0000143	HP:0000143	Rectovaginal fistula	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0000143	HP:0000143	Rectovaginal fistula	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040284 - Very rare	140
HP:0000143	HP:0000143	Rectovaginal fistula	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0000143	HP:0000143	Rectovaginal fistula	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000143	HP:0000143	Rectovaginal fistula	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.	69
HP:0000143	HP:0000143	Rectovaginal fistula	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0000143	HP:0000143	Rectovaginal fistula	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0000143	HP:0000143	Rectovaginal fistula	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000143	HP:0000143	Rectovaginal fistula	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0000143	HP:0000143	Rectovaginal fistula	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0000143	HP:0000143	Rectovaginal fistula	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000143	HP:0000143	Rectovaginal fistula	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0000143	HP:0000143	Rectovaginal fistula	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000143	HP:0000143	Rectovaginal fistula	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0000143	HP:0000143	Rectovaginal fistula	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional	86
HP:0000143	HP:0000143	Rectovaginal fistula	0	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:0000143	HP:0000143	Rectovaginal fistula	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0000143	HP:0000143	Rectovaginal fistula	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0000143	HP:0000143	Rectovaginal fistula	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25

Genes (21) :CCNQ DACT1 DDB1 FREM1 IL10RB JAK3 KIF7 LONP1 MKKS MNX1 PI4KA POLR1B POLR1C POLR1D RECQL4 SALL1 SALL4 SPINT2 TCOF1 TCTN3 UBR1

Diseases (20) :OMIM:300707 ORPHA:857 OMIM:617466 OMIM:619426 OMIM:608980 OMIM:612567 ORPHA:35078 OMIM:200990 OMIM:600373 OMIM:236700 OMIM:176450 OMIM:619708 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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