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:
Anorectal anomaly (HP:0012732)

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

..Starting node
..Perianal dermatitis (HP:0011131)

Term ID:

11131

Name:

Perianal dermatitis

Synonym:

Perianal rash

Definition:

The presence of a rash (change of color and texture) of the perianal skin.

Comments:

Reference:

HP:0011131

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anal atresia (HP:0002023)

Anal canal neoplasm (HP:0030437)

Anal fissure (HP:0012390)

Anal fistula (HP:0010447)

Anal margin neoplasm (HP:0030440)

Anal mucosal leukoplakia (HP:0005212)

Anal stenosis (HP:0002025)

Ectopic anus (HP:0004397)

Perianal abscess (HP:0009789)

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:0011131	HP:0011131	Perianal dermatitis	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0011131	HP:0011131	Perianal dermatitis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011131	HP:0011131	Perianal dermatitis	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257

Genes (3) :ADAM17 DEF6 EGFR

Diseases (2) :ORPHA:294023 OMIM:619573

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