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:
Abnormality of the outer ear (HP:0000356)

Grandparent Node:
Neoplasm of the ear (HP:0012780)

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

Parent Node:
Exostoses (HP:0100777)

Parent Node:
Neoplasm of the outer ear (HP:0040095)

..Starting node
..Exostosis of the external auditory canal (HP:0004459)

Term ID:

4459

Name:

Exostosis of the external auditory canal

Synonym:

External auditory canal exostoses

Definition:

A benign bony growth projecting outward from a bone surface within the external auditory canal.

Comments:

Reference:

HP:0004459

Genes and Diseases:

Child Nodes:

Sister Nodes:

Basalioma of the outer ear (HP:0040098)

Neoplasm of the ceruminal gland (HP:0040097)

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:0004459	HP:0004459	Exostosis of the external auditory canal	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0004459	HP:0004459	Exostosis of the external auditory canal	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome

Genes (2) :CHRNG IPO8

Diseases (2) :OMIM:265000 OMIM:619472

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