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:
Morphological abnormality of the inner ear (HP:0011390)

Parent Node:
Abnormality of the internal auditory canal (HP:0011384)

..Starting node
..Dilatated internal auditory canal (HP:0004458)

Term ID:

4458

Name:

Dilatated internal auditory canal

Synonym:

Bulbous internal auditory canal; Enlarged internal auditory canal

Definition:

The presence of a dilated inner part of external acoustic meatus.

Comments:

Reference:

HP:0004458

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent internal auditory canal (HP:0011385)

Narrow internal auditory canal (HP:0011386)

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:0004458	HP:0004458	Dilatated internal auditory canal	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0004458	HP:0004458	Dilatated internal auditory canal	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0004458	HP:0004458	Dilatated internal auditory canal	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0004458	HP:0004458	Dilatated internal auditory canal	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0004458	HP:0004458	Dilatated internal auditory canal	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0004458	HP:0004458	Dilatated internal auditory canal	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0004458	HP:0004458	Dilatated internal auditory canal	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50

Genes (5) :EYA1 GJB2 GJB6 POU3F4 SIX1

Diseases (4) :OMIM:602588 OMIM:113650 OMIM:304400 ORPHA:1435

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