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:
Inflammatory abnormality of the skin (HP:0011123)

Parent Node:
Abnormality of the anus (HP:0004378)

Parent Node:
Cutaneous abscess (HP:0031292)

..Starting node
..Perianal abscess (HP:0009789)

Term ID:

9789

Name:

Perianal abscess

Synonym:

Definition:

The presence of an abscess located around the anus.

Comments:

Reference:

HP:0009789

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pilonidal abscess (HP:0010771)

Recurrent cutaneous abscess formation (HP:0100838)

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:0009789	HP:0009789	Perianal abscess	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0009789	HP:0009789	Perianal abscess	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0009789	HP:0009789	Perianal abscess	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0009789	HP:0009789	Perianal abscess	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0009789	HP:0009789	Perianal abscess	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0009789	HP:0009789	Perianal abscess	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0009789	HP:0009789	Perianal abscess	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0009789	HP:0009789	Perianal abscess	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0009789	HP:0009789	Perianal abscess	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0009789	HP:0009789	Perianal abscess	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13

Genes (10) :CYBC1 ELANE ELF4 G6PC3 IKZF3 IL10RA IL10RB MNX1 RIPK1 TGFB1

Diseases (10) :OMIM:618935 ORPHA:2686 OMIM:301074 OMIM:612541 OMIM:619437 OMIM:613148 OMIM:612567 OMIM:176450 OMIM:618108 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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