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 outer ear (HP:0000356)

Parent Node:
Abnormality of the auditory canal (HP:0000372)

..Starting node
..Otitis externa (HP:0410017)

Term ID:

410017

Name:

Otitis externa

Synonym:

Swimmer's ear

Definition:

Inflammation or infection of the external auditory canal (EAC), the auricle, or both.

Comments:

Reference:

HP:0410017

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atresia of the external auditory canal (HP:0000413)

Cerumen abnormality (HP:0030787)

Exostosis of the external auditory canal (HP:0004459)

Stenosis of the external auditory canal (HP:0000402)

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:0410017	HP:0410017	Otitis externa	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0410017	HP:0410017	Otitis externa	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0410017	HP:0410017	Otitis externa	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0410017	HP:0410017	Otitis externa	0	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66

Genes (3) :ADAM17 EGFR MRTFA

Diseases (3) :OMIM:614328 ORPHA:294023 OMIM:618847

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