Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Urogenital fistula (HP:0100589)

Parent Node:
Anal fistula (HP:0010447)

Parent Node:
Perineal fistula (HP:0004871)

..Starting node
..Anoperineal fistula (HP:0005218)

Term ID:

5218

Name:

Anoperineal fistula

Synonym:

Perianal fistula

Definition:

The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.

Comments:

Reference:

HP:0005218

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rectoperineal fistula (HP:0004792)

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:0005218	HP:0005218	Anoperineal fistula	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0005218	HP:0005218	Anoperineal fistula	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0005218	HP:0005218	Anoperineal fistula	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0005218	HP:0005218	Anoperineal fistula	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0005218	HP:0005218	Anoperineal fistula	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0005218	HP:0005218	Anoperineal fistula	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0005218	HP:0005218	Anoperineal fistula	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13

Genes (7) :CD3G ELF4 KDM6A KMT2D PKP1 SYK TGFB1

Diseases (6) :OMIM:615607 OMIM:301074 OMIM:147920 ORPHA:158668 OMIM:619381 OMIM:618213

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.