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:
Urogenital fistula (HP:0100589)

..Starting node
..Perineal fistula (HP:0004871)

Term ID:

4871

Name:

Perineal fistula

Synonym:

Definition:

The presence of a fistula between the bowel and the perineum.

Comments:

Reference:

HP:0004871

Genes and Diseases:

Child Nodes:

........

Rectoperineal fistula (HP:0004792)

........

Anoperineal fistula (HP:0005218)

Sister Nodes:

Bladder fistula (HP:0004321)

Rectal fistula (HP:0100590)

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:0004871	HP:0004871	Perineal fistula	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004871	HP:0004871	Perineal fistula	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0004871	HP:0004871	Perineal fistula	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0004871	HP:0004871	Perineal fistula	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004871	HP:0004871	Perineal fistula	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0004871	HP:0004871	Perineal fistula	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0004871	HP:0004871	Perineal fistula	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0004871	HP:0004871	Perineal fistula	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0004871	HP:0004871	Perineal fistula	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0004871	HP:0004871	Perineal fistula	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0004871	HP:0004871	Perineal fistula	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004871	HP:0004871	Perineal fistula	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0004871	HP:0004871	Perineal fistula	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0004871	HP:0005218	Anoperineal fistula	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0004871	HP:0004792	Rectoperineal fistula	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0004871	HP:0004792	Rectoperineal fistula	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0004871	HP:0005218	Anoperineal fistula	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0004871	HP:0005218	Anoperineal fistula	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0004871	HP:0005218	Anoperineal fistula	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0004871	HP:0005218	Anoperineal fistula	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0004871	HP:0004792	Rectoperineal fistula	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0004871	HP:0004792	Rectoperineal fistula	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0004871	HP:0005218	Anoperineal fistula	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0004871	HP:0005218	Anoperineal fistula	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13

Genes (12) :CD3G CDK8 DACT1 ELF4 KDM6A KMT2D PKP1 RECQL4 SALL1 SYK TCTN3 TGFB1

Diseases (11) :OMIM:615607 OMIM:618748 ORPHA:857 OMIM:301074 OMIM:147920 ORPHA:158668 OMIM:218600 OMIM:107480 OMIM:619381 ORPHA:2753 OMIM:618213

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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